Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
Identifieur interne : 001792 ( Main/Exploration ); précédent : 001791; suivant : 001793Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
Auteurs : Rikke K. J. Olsen [Danemark] ; Eliška Ko A Ková [Allemagne] ; Teresa A. Giancaspero [Italie] ; Signe Mosegaard [Danemark] ; Veronika Boczonadi [Royaume-Uni] ; Lavinija Matakovi [Autriche] ; Alice Veauville-Merllié [France] ; Caterina Terrile [Allemagne] ; Thomas Schwarzmayr [Allemagne] ; Tobias B. Haack [Allemagne] ; Mari Auranen [Finlande] ; Piero Leone [Italie] ; Michele Galluccio [Italie] ; Apolline Imbard [France] ; Purificacion Gutierrez-Rios [Royaume-Uni, Espagne] ; Johan Palmfeldt [Danemark] ; Elisabeth Graf [Allemagne] ; Christine Vianey-Saban [France] ; Marcus Oppenheim [Royaume-Uni] ; Manuel Schiff [France] ; Samia Pichard [France] ; Odile Rigal [France] ; Angela Pyle [Royaume-Uni] ; Patrick F. Chinnery [Royaume-Uni] ; Vassiliki Konstantopoulou [Autriche] ; Dorothea Möslinger [Autriche] ; René G. Feichtinger [Autriche] ; Beril Talim [Turquie] ; Haluk Topaloglu [Turquie] ; Turgay Coskun [Turquie] ; Safak Gucer [Turquie] ; Annalisa Botta [Italie] ; Elena Pegoraro [Italie] ; Adriana Malena [Italie] ; Lodovica Vergani [Italie] ; Daniela Mazzà [Italie] ; Marcella Zollino [Italie] ; Daniele Ghezzi [Italie] ; Cecile Acquaviva [France] ; Tiina Tyni [Finlande] ; Avihu Boneh [Australie] ; Thomas Meitinger [Allemagne] ; Tim M. Strom [Allemagne] ; Niels Gregersen [Danemark] ; Johannes A. Mayr [Autriche] ; Rita Horvath [Royaume-Uni] ; Maria Barile [Italie] ; Holger Prokisch [Allemagne]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2016.
Descripteurs français
- KwdFr :
- ARN messager (génétique), Adulte, Analyse de profil d'expression de gènes, Cellules cultivées, Complexe vitaminique B (pharmacologie), Déficit multiple en acyl CoA déshydrogénase (anatomopathologie), Déficit multiple en acyl CoA déshydrogénase (génétique), Déficit multiple en acyl CoA déshydrogénase (traitement médicamenteux), Femelle, Fibroblastes (), Fibroblastes (anatomopathologie), Fibroblastes (métabolisme), Flavine adénine dinucléotide (métabolisme), Foie (), Foie (anatomopathologie), Foie (métabolisme), Humains, Jeune adulte, Liaison aux protéines, Maladies mitochondriales (anatomopathologie), Maladies mitochondriales (génétique), Maladies mitochondriales (traitement médicamenteux), Muscles squelettiques (), Muscles squelettiques (anatomopathologie), Muscles squelettiques (métabolisme), Mutagenèse dirigée, Mutation avec décalage du cadre de lecture (génétique), Mâle, Nourrisson, Nouveau-né, Nucleotidyltransferases (génétique), Peau (), Peau (anatomopathologie), Peau (métabolisme), RT-PCR, Riboflavine (pharmacologie), Réaction de polymérisation en chaine en temps réel, Spectrométrie de masse MALDI, Technique de Western, Transfert d'électrons, Études cas-témoins.
- MESH :
- anatomopathologie : Déficit multiple en acyl CoA déshydrogénase, Fibroblastes, Foie, Maladies mitochondriales, Muscles squelettiques, Peau.
- génétique : ARN messager, Déficit multiple en acyl CoA déshydrogénase, Maladies mitochondriales, Mutation avec décalage du cadre de lecture, Nucleotidyltransferases.
- métabolisme : Fibroblastes, Flavine adénine dinucléotide, Foie, Muscles squelettiques, Peau.
- pharmacologie : Complexe vitaminique B, Riboflavine.
- traitement médicamenteux : Déficit multiple en acyl CoA déshydrogénase, Maladies mitochondriales.
- Adulte, Analyse de profil d'expression de gènes, Cellules cultivées, Femelle, Fibroblastes, Foie, Humains, Jeune adulte, Liaison aux protéines, Muscles squelettiques, Mutagenèse dirigée, Mâle, Nourrisson, Nouveau-né, Peau, RT-PCR, Réaction de polymérisation en chaine en temps réel, Spectrométrie de masse MALDI, Technique de Western, Transfert d'électrons, Études cas-témoins.
English descriptors
- KwdEn :
- Adult, Blotting, Western, Case-Control Studies, Cells, Cultured, Electron Transport, Female, Fibroblasts (drug effects), Fibroblasts (metabolism), Fibroblasts (pathology), Flavin-Adenine Dinucleotide (metabolism), Frameshift Mutation (genetics), Gene Expression Profiling, Humans, Infant, Infant, Newborn, Liver (drug effects), Liver (metabolism), Liver (pathology), Male, Mitochondrial Diseases (drug therapy), Mitochondrial Diseases (genetics), Mitochondrial Diseases (pathology), Multiple Acyl Coenzyme A Dehydrogenase Deficiency (drug therapy), Multiple Acyl Coenzyme A Dehydrogenase Deficiency (genetics), Multiple Acyl Coenzyme A Dehydrogenase Deficiency (pathology), Muscle, Skeletal (drug effects), Muscle, Skeletal (metabolism), Muscle, Skeletal (pathology), Mutagenesis, Site-Directed, Nucleotidyltransferases (genetics), Protein Binding, RNA, Messenger (genetics), Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Riboflavin (pharmacology), Skin (drug effects), Skin (metabolism), Skin (pathology), Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Vitamin B Complex (pharmacology), Young Adult.
- MESH :
- chemical , genetics : Nucleotidyltransferases, RNA, Messenger.
- chemical , metabolism : Flavin-Adenine Dinucleotide.
- drug effects : Fibroblasts, Liver, Muscle, Skeletal, Skin.
- drug therapy : Mitochondrial Diseases, Multiple Acyl Coenzyme A Dehydrogenase Deficiency.
- genetics : Frameshift Mutation, Mitochondrial Diseases, Multiple Acyl Coenzyme A Dehydrogenase Deficiency.
- metabolism : Fibroblasts, Liver, Muscle, Skeletal, Skin.
- pathology : Fibroblasts, Liver, Mitochondrial Diseases, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Muscle, Skeletal, Skin.
- chemical , pharmacology : Riboflavin, Vitamin B Complex.
- Adult, Blotting, Western, Case-Control Studies, Cells, Cultured, Electron Transport, Female, Gene Expression Profiling, Humans, Infant, Infant, Newborn, Male, Mutagenesis, Site-Directed, Protein Binding, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Young Adult.
Abstract
Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the genetic basis of MADD, a number of cases remain unexplained. Here, we report clinically relevant variants in
Url:
DOI: 10.1016/j.ajhg.2016.04.006
PubMed: 27259049
PubMed Central: 4908180
Affiliations:
- Allemagne, Australie, Autriche, Danemark, Espagne, Finlande, France, Italie, Royaume-Uni, Turquie
- Angleterre, Angleterre de l'Est, Bavière, District de Haute-Bavière, Latium, Lombardie, Victoria (État), Vienne (Autriche), Île-de-France
- Cambridge, Melbourne, Milan, Munich, Paris, Rome, Vienne (Autriche)
- Université de Cambridge, Université de Melbourne, Université technique de Munich
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Le document en format XML
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<author><name sortKey="Galluccio, Michele" sort="Galluccio, Michele" uniqKey="Galluccio M" first="Michele" last="Galluccio">Michele Galluccio</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department DiBEST (Biology, Ecology, and Earth Sciences), University of Calabria, 87036 Arcavacata di Rende</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="aff11">Pharmacy Faculty, Paris Sud University, 92019 Chatenay-Malabry, France</nlm:aff>
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<affiliation wicri:level="1"><nlm:aff id="aff12">Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013 Seville, Spain</nlm:aff>
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<author><name sortKey="Palmfeldt, Johan" sort="Palmfeldt, Johan" uniqKey="Palmfeldt J" first="Johan" last="Palmfeldt">Johan Palmfeldt</name>
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<author><name sortKey="Graf, Elisabeth" sort="Graf, Elisabeth" uniqKey="Graf E" first="Elisabeth" last="Graf">Elisabeth Graf</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
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<author><name sortKey="Vianey Saban, Christine" sort="Vianey Saban, Christine" uniqKey="Vianey Saban C" first="Christine" last="Vianey-Saban">Christine Vianey-Saban</name>
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<country xml:lang="fr">France</country>
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</author>
<author><name sortKey="Oppenheim, Marcus" sort="Oppenheim, Marcus" uniqKey="Oppenheim M" first="Marcus" last="Oppenheim">Marcus Oppenheim</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London WCIN 3BG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London WCIN 3BG</wicri:regionArea>
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</author>
<author><name sortKey="Schiff, Manuel" sort="Schiff, Manuel" uniqKey="Schiff M" first="Manuel" last="Schiff">Manuel Schiff</name>
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</placeName>
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<affiliation wicri:level="1"><nlm:aff id="aff15">Reference Center for Inherited Metabolic Diseases, Robert-Debré Hospital, Assistance Publique – Hôpitaux de Paris, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Reference Center for Inherited Metabolic Diseases, Robert-Debré Hospital, Assistance Publique – Hôpitaux de Paris, 75019 Paris</wicri:regionArea>
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</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff16">Faculté de Médecine Denis Diderot, Université Paris Diderot (Paris 7), 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Faculté de Médecine Denis Diderot, Université Paris Diderot (Paris 7), 75013 Paris</wicri:regionArea>
<wicri:noRegion>75013 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
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</author>
<author><name sortKey="Pichard, Samia" sort="Pichard, Samia" uniqKey="Pichard S" first="Samia" last="Pichard">Samia Pichard</name>
<affiliation wicri:level="1"><nlm:aff id="aff15">Reference Center for Inherited Metabolic Diseases, Robert-Debré Hospital, Assistance Publique – Hôpitaux de Paris, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Reference Center for Inherited Metabolic Diseases, Robert-Debré Hospital, Assistance Publique – Hôpitaux de Paris, 75019 Paris</wicri:regionArea>
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<author><name sortKey="Rigal, Odile" sort="Rigal, Odile" uniqKey="Rigal O" first="Odile" last="Rigal">Odile Rigal</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Biochemistry Hormonology Laboratory, Robert-Debré Hospital, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Biochemistry Hormonology Laboratory, Robert-Debré Hospital, 75019 Paris</wicri:regionArea>
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<placeName><settlement type="city">Paris</settlement>
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<author><name sortKey="Pyle, Angela" sort="Pyle, Angela" uniqKey="Pyle A" first="Angela" last="Pyle">Angela Pyle</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
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<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff17">Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, Cambridge CB2 0QQ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, Cambridge CB2 0QQ</wicri:regionArea>
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<region type="country">Angleterre</region>
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<author><name sortKey="Konstantopoulou, Vassiliki" sort="Konstantopoulou, Vassiliki" uniqKey="Konstantopoulou V" first="Vassiliki" last="Konstantopoulou">Vassiliki Konstantopoulou</name>
<affiliation wicri:level="3"><nlm:aff id="aff18">Department of Pediatrics, Medical University of Vienna, 1090 Vienna, Austria</nlm:aff>
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<wicri:regionArea>Department of Pediatrics, Medical University of Vienna, 1090 Vienna</wicri:regionArea>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
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<author><name sortKey="Moslinger, Dorothea" sort="Moslinger, Dorothea" uniqKey="Moslinger D" first="Dorothea" last="Möslinger">Dorothea Möslinger</name>
<affiliation wicri:level="3"><nlm:aff id="aff18">Department of Pediatrics, Medical University of Vienna, 1090 Vienna, Austria</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, Medical University of Vienna, 1090 Vienna</wicri:regionArea>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Feichtinger, Rene G" sort="Feichtinger, Rene G" uniqKey="Feichtinger R" first="René G." last="Feichtinger">René G. Feichtinger</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, 5020 Salzburg, Austria</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, 5020 Salzburg</wicri:regionArea>
<wicri:noRegion>5020 Salzburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Pathology Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
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<author><name sortKey="Topaloglu, Haluk" sort="Topaloglu, Haluk" uniqKey="Topaloglu H" first="Haluk" last="Topaloglu">Haluk Topaloglu</name>
<affiliation wicri:level="1"><nlm:aff id="aff20">Neurology Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Neurology Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara</wicri:regionArea>
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</author>
<author><name sortKey="Coskun, Turgay" sort="Coskun, Turgay" uniqKey="Coskun T" first="Turgay" last="Coskun">Turgay Coskun</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Metabolism Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Metabolism Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara</wicri:regionArea>
<wicri:noRegion>06100 Ankara</wicri:noRegion>
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</author>
<author><name sortKey="Gucer, Safak" sort="Gucer, Safak" uniqKey="Gucer S" first="Safak" last="Gucer">Safak Gucer</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Pathology Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
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<wicri:regionArea>Pathology Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Botta, Annalisa" sort="Botta, Annalisa" uniqKey="Botta A" first="Annalisa" last="Botta">Annalisa Botta</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Medical Genetics Section, Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome</wicri:regionArea>
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<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pegoraro, Elena" sort="Pegoraro, Elena" uniqKey="Pegoraro E" first="Elena" last="Pegoraro">Elena Pegoraro</name>
<affiliation wicri:level="1"><nlm:aff id="aff23">Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Malena, Adriana" sort="Malena, Adriana" uniqKey="Malena A" first="Adriana" last="Malena">Adriana Malena</name>
<affiliation wicri:level="1"><nlm:aff id="aff23">Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Vergani, Lodovica" sort="Vergani, Lodovica" uniqKey="Vergani L" first="Lodovica" last="Vergani">Lodovica Vergani</name>
<affiliation wicri:level="1"><nlm:aff id="aff23">Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Mazza, Daniela" sort="Mazza, Daniela" uniqKey="Mazza D" first="Daniela" last="Mazzà">Daniela Mazzà</name>
<affiliation wicri:level="1"><nlm:aff id="aff24">Italy Institute of Medical Genetics, Catholic University of Roma, 00168 Rome, Italy</nlm:aff>
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<wicri:regionArea>Italy Institute of Medical Genetics, Catholic University of Roma, 00168 Rome</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Zollino, Marcella" sort="Zollino, Marcella" uniqKey="Zollino M" first="Marcella" last="Zollino">Marcella Zollino</name>
<affiliation wicri:level="1"><nlm:aff id="aff24">Italy Institute of Medical Genetics, Catholic University of Roma, 00168 Rome, Italy</nlm:aff>
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<wicri:regionArea>Italy Institute of Medical Genetics, Catholic University of Roma, 00168 Rome</wicri:regionArea>
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</placeName>
</affiliation>
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<author><name sortKey="Ghezzi, Daniele" sort="Ghezzi, Daniele" uniqKey="Ghezzi D" first="Daniele" last="Ghezzi">Daniele Ghezzi</name>
<affiliation wicri:level="1"><nlm:aff id="aff25">Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy</nlm:aff>
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<wicri:regionArea>Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan</wicri:regionArea>
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<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
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<author><name sortKey="Acquaviva, Cecile" sort="Acquaviva, Cecile" uniqKey="Acquaviva C" first="Cecile" last="Acquaviva">Cecile Acquaviva</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie Est, Centre Hospitalier Universitaire Lyon, 69500 Bron</wicri:regionArea>
<wicri:noRegion>69500 Bron</wicri:noRegion>
<wicri:noRegion>69500 Bron</wicri:noRegion>
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</author>
<author><name sortKey="Tyni, Tiina" sort="Tyni, Tiina" uniqKey="Tyni T" first="Tiina" last="Tyni">Tiina Tyni</name>
<affiliation wicri:level="1"><nlm:aff id="aff26">Department of Pediatric Neurology, Hospital for Children and Adolescence, Helsinki University Central Hospital, 280 Helsinki, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
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</affiliation>
</author>
<author><name sortKey="Boneh, Avihu" sort="Boneh, Avihu" uniqKey="Boneh A" first="Avihu" last="Boneh">Avihu Boneh</name>
<affiliation wicri:level="4"><nlm:aff id="aff27">Murdoch Childrens Research Institute and University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Murdoch Childrens Research Institute and University of Melbourne, Melbourne, VIC 3010</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
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<author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<affiliation wicri:level="4"><nlm:aff id="aff2">Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
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<settlement type="city">Munich</settlement>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université technique de Munich</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff>
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<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg</wicri:regionArea>
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<author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M." last="Strom">Tim M. Strom</name>
<affiliation wicri:level="4"><nlm:aff id="aff2">Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany</nlm:aff>
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<affiliation wicri:level="1"><nlm:aff id="aff3">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff>
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<author><name sortKey="Mayr, Johannes A" sort="Mayr, Johannes A" uniqKey="Mayr J" first="Johannes A." last="Mayr">Johannes A. Mayr</name>
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<country xml:lang="fr">Autriche</country>
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<author><name sortKey="Horvath, Rita" sort="Horvath, Rita" uniqKey="Horvath R" first="Rita" last="Horvath">Rita Horvath</name>
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<author><name sortKey="Barile, Maria" sort="Barile, Maria" uniqKey="Barile M" first="Maria" last="Barile">Maria Barile</name>
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<author><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
<affiliation wicri:level="4"><nlm:aff id="aff2">Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany</nlm:aff>
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<affiliation wicri:level="1"><nlm:aff id="aff3">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency</title>
<author><name sortKey="Olsen, Rikke K J" sort="Olsen, Rikke K J" uniqKey="Olsen R" first="Rikke K. J." last="Olsen">Rikke K. J. Olsen</name>
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<author><name sortKey="Ko A Kova, Eliska" sort="Ko A Kova, Eliska" uniqKey="Ko A Kova E" first="Eliška" last="Ko A Ková">Eliška Ko A Ková</name>
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<author><name sortKey="Giancaspero, Teresa A" sort="Giancaspero, Teresa A" uniqKey="Giancaspero T" first="Teresa A." last="Giancaspero">Teresa A. Giancaspero</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari Aldo Moro, 70125 Bari, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari Aldo Moro, 70125 Bari</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Mosegaard, Signe" sort="Mosegaard, Signe" uniqKey="Mosegaard S" first="Signe" last="Mosegaard">Signe Mosegaard</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and University Hospital, 8200 Aarhus N, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and University Hospital, 8200 Aarhus N</wicri:regionArea>
<wicri:noRegion>8200 Aarhus N</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boczonadi, Veronika" sort="Boczonadi, Veronika" uniqKey="Boczonadi V" first="Veronika" last="Boczonadi">Veronika Boczonadi</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Matakovi, Lavinija" sort="Matakovi, Lavinija" uniqKey="Matakovi L" first="Lavinija" last="Matakovi">Lavinija Matakovi</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, 5020 Salzburg, Austria</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, 5020 Salzburg</wicri:regionArea>
<wicri:noRegion>5020 Salzburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Veauville Merllie, Alice" sort="Veauville Merllie, Alice" uniqKey="Veauville Merllie A" first="Alice" last="Veauville-Merllié">Alice Veauville-Merllié</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie Est, Centre Hospitalier Universitaire Lyon, 69500 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie Est, Centre Hospitalier Universitaire Lyon, 69500 Bron</wicri:regionArea>
<wicri:noRegion>69500 Bron</wicri:noRegion>
<wicri:noRegion>69500 Bron</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Terrile, Caterina" sort="Terrile, Caterina" uniqKey="Terrile C" first="Caterina" last="Terrile">Caterina Terrile</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg</wicri:regionArea>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schwarzmayr, Thomas" sort="Schwarzmayr, Thomas" uniqKey="Schwarzmayr T" first="Thomas" last="Schwarzmayr">Thomas Schwarzmayr</name>
<affiliation wicri:level="4"><nlm:aff id="aff2">Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Technische Universität München, 81675 Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université technique de Munich</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg</wicri:regionArea>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Haack, Tobias B" sort="Haack, Tobias B" uniqKey="Haack T" first="Tobias B." last="Haack">Tobias B. Haack</name>
<affiliation wicri:level="4"><nlm:aff id="aff2">Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Technische Universität München, 81675 Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université technique de Munich</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg</wicri:regionArea>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Auranen, Mari" sort="Auranen, Mari" uniqKey="Auranen M" first="Mari" last="Auranen">Mari Auranen</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, 340 Helsinki, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, 340 Helsinki</wicri:regionArea>
<wicri:noRegion>340 Helsinki</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Leone, Piero" sort="Leone, Piero" uniqKey="Leone P" first="Piero" last="Leone">Piero Leone</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari Aldo Moro, 70125 Bari, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari Aldo Moro, 70125 Bari</wicri:regionArea>
<wicri:noRegion>70125 Bari</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Galluccio, Michele" sort="Galluccio, Michele" uniqKey="Galluccio M" first="Michele" last="Galluccio">Michele Galluccio</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">Department DiBEST (Biology, Ecology, and Earth Sciences), University of Calabria, 87036 Arcavacata di Rende, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department DiBEST (Biology, Ecology, and Earth Sciences), University of Calabria, 87036 Arcavacata di Rende</wicri:regionArea>
<wicri:noRegion>87036 Arcavacata di Rende</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Imbard, Apolline" sort="Imbard, Apolline" uniqKey="Imbard A" first="Apolline" last="Imbard">Apolline Imbard</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Biochemistry Hormonology Laboratory, Robert-Debré Hospital, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Biochemistry Hormonology Laboratory, Robert-Debré Hospital, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11">Pharmacy Faculty, Paris Sud University, 92019 Chatenay-Malabry, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pharmacy Faculty, Paris Sud University, 92019 Chatenay-Malabry</wicri:regionArea>
<wicri:noRegion>92019 Chatenay-Malabry</wicri:noRegion>
<wicri:noRegion>92019 Chatenay-Malabry</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gutierrez Rios, Purificacion" sort="Gutierrez Rios, Purificacion" uniqKey="Gutierrez Rios P" first="Purificacion" last="Gutierrez-Rios">Purificacion Gutierrez-Rios</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff12">Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013 Seville, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013 Seville</wicri:regionArea>
<wicri:noRegion>41013 Seville</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Palmfeldt, Johan" sort="Palmfeldt, Johan" uniqKey="Palmfeldt J" first="Johan" last="Palmfeldt">Johan Palmfeldt</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and University Hospital, 8200 Aarhus N, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and University Hospital, 8200 Aarhus N</wicri:regionArea>
<wicri:noRegion>8200 Aarhus N</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Graf, Elisabeth" sort="Graf, Elisabeth" uniqKey="Graf E" first="Elisabeth" last="Graf">Elisabeth Graf</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg</wicri:regionArea>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vianey Saban, Christine" sort="Vianey Saban, Christine" uniqKey="Vianey Saban C" first="Christine" last="Vianey-Saban">Christine Vianey-Saban</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie Est, Centre Hospitalier Universitaire Lyon, 69500 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie Est, Centre Hospitalier Universitaire Lyon, 69500 Bron</wicri:regionArea>
<wicri:noRegion>69500 Bron</wicri:noRegion>
<wicri:noRegion>69500 Bron</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Oppenheim, Marcus" sort="Oppenheim, Marcus" uniqKey="Oppenheim M" first="Marcus" last="Oppenheim">Marcus Oppenheim</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London WCIN 3BG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London WCIN 3BG</wicri:regionArea>
<wicri:noRegion>London WCIN 3BG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schiff, Manuel" sort="Schiff, Manuel" uniqKey="Schiff M" first="Manuel" last="Schiff">Manuel Schiff</name>
<affiliation wicri:level="1"><nlm:aff id="aff14">INSERM UMR 1141, Hôpital Robert Debré, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1141, Hôpital Robert Debré, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15">Reference Center for Inherited Metabolic Diseases, Robert-Debré Hospital, Assistance Publique – Hôpitaux de Paris, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Reference Center for Inherited Metabolic Diseases, Robert-Debré Hospital, Assistance Publique – Hôpitaux de Paris, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff16">Faculté de Médecine Denis Diderot, Université Paris Diderot (Paris 7), 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Faculté de Médecine Denis Diderot, Université Paris Diderot (Paris 7), 75013 Paris</wicri:regionArea>
<wicri:noRegion>75013 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pichard, Samia" sort="Pichard, Samia" uniqKey="Pichard S" first="Samia" last="Pichard">Samia Pichard</name>
<affiliation wicri:level="1"><nlm:aff id="aff15">Reference Center for Inherited Metabolic Diseases, Robert-Debré Hospital, Assistance Publique – Hôpitaux de Paris, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Reference Center for Inherited Metabolic Diseases, Robert-Debré Hospital, Assistance Publique – Hôpitaux de Paris, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rigal, Odile" sort="Rigal, Odile" uniqKey="Rigal O" first="Odile" last="Rigal">Odile Rigal</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Biochemistry Hormonology Laboratory, Robert-Debré Hospital, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Biochemistry Hormonology Laboratory, Robert-Debré Hospital, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pyle, Angela" sort="Pyle, Angela" uniqKey="Pyle A" first="Angela" last="Pyle">Angela Pyle</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff17">Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, Cambridge CB2 0QQ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, Cambridge CB2 0QQ</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Konstantopoulou, Vassiliki" sort="Konstantopoulou, Vassiliki" uniqKey="Konstantopoulou V" first="Vassiliki" last="Konstantopoulou">Vassiliki Konstantopoulou</name>
<affiliation wicri:level="3"><nlm:aff id="aff18">Department of Pediatrics, Medical University of Vienna, 1090 Vienna, Austria</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, Medical University of Vienna, 1090 Vienna</wicri:regionArea>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moslinger, Dorothea" sort="Moslinger, Dorothea" uniqKey="Moslinger D" first="Dorothea" last="Möslinger">Dorothea Möslinger</name>
<affiliation wicri:level="3"><nlm:aff id="aff18">Department of Pediatrics, Medical University of Vienna, 1090 Vienna, Austria</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, Medical University of Vienna, 1090 Vienna</wicri:regionArea>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Feichtinger, Rene G" sort="Feichtinger, Rene G" uniqKey="Feichtinger R" first="René G." last="Feichtinger">René G. Feichtinger</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, 5020 Salzburg, Austria</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, 5020 Salzburg</wicri:regionArea>
<wicri:noRegion>5020 Salzburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Pathology Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Pathology Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara</wicri:regionArea>
<wicri:noRegion>06100 Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Topaloglu, Haluk" sort="Topaloglu, Haluk" uniqKey="Topaloglu H" first="Haluk" last="Topaloglu">Haluk Topaloglu</name>
<affiliation wicri:level="1"><nlm:aff id="aff20">Neurology Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Neurology Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara</wicri:regionArea>
<wicri:noRegion>06100 Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Coskun, Turgay" sort="Coskun, Turgay" uniqKey="Coskun T" first="Turgay" last="Coskun">Turgay Coskun</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Metabolism Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Metabolism Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara</wicri:regionArea>
<wicri:noRegion>06100 Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gucer, Safak" sort="Gucer, Safak" uniqKey="Gucer S" first="Safak" last="Gucer">Safak Gucer</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Pathology Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Pathology Unit, Department of Pediatrics, Hacettepe University Children’s Hospital, 06100 Ankara</wicri:regionArea>
<wicri:noRegion>06100 Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Botta, Annalisa" sort="Botta, Annalisa" uniqKey="Botta A" first="Annalisa" last="Botta">Annalisa Botta</name>
<affiliation wicri:level="1"><nlm:aff id="aff22">Medical Genetics Section, Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Medical Genetics Section, Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pegoraro, Elena" sort="Pegoraro, Elena" uniqKey="Pegoraro E" first="Elena" last="Pegoraro">Elena Pegoraro</name>
<affiliation wicri:level="1"><nlm:aff id="aff23">Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova</wicri:regionArea>
<wicri:noRegion>35129 Padova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Malena, Adriana" sort="Malena, Adriana" uniqKey="Malena A" first="Adriana" last="Malena">Adriana Malena</name>
<affiliation wicri:level="1"><nlm:aff id="aff23">Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova</wicri:regionArea>
<wicri:noRegion>35129 Padova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vergani, Lodovica" sort="Vergani, Lodovica" uniqKey="Vergani L" first="Lodovica" last="Vergani">Lodovica Vergani</name>
<affiliation wicri:level="1"><nlm:aff id="aff23">Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Center, Department of Neurosciences, University of Padova, 35129 Padova</wicri:regionArea>
<wicri:noRegion>35129 Padova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mazza, Daniela" sort="Mazza, Daniela" uniqKey="Mazza D" first="Daniela" last="Mazzà">Daniela Mazzà</name>
<affiliation wicri:level="1"><nlm:aff id="aff24">Italy Institute of Medical Genetics, Catholic University of Roma, 00168 Rome, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Italy Institute of Medical Genetics, Catholic University of Roma, 00168 Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zollino, Marcella" sort="Zollino, Marcella" uniqKey="Zollino M" first="Marcella" last="Zollino">Marcella Zollino</name>
<affiliation wicri:level="1"><nlm:aff id="aff24">Italy Institute of Medical Genetics, Catholic University of Roma, 00168 Rome, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Italy Institute of Medical Genetics, Catholic University of Roma, 00168 Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ghezzi, Daniele" sort="Ghezzi, Daniele" uniqKey="Ghezzi D" first="Daniele" last="Ghezzi">Daniele Ghezzi</name>
<affiliation wicri:level="1"><nlm:aff id="aff25">Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Acquaviva, Cecile" sort="Acquaviva, Cecile" uniqKey="Acquaviva C" first="Cecile" last="Acquaviva">Cecile Acquaviva</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie Est, Centre Hospitalier Universitaire Lyon, 69500 Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie Est, Centre Hospitalier Universitaire Lyon, 69500 Bron</wicri:regionArea>
<wicri:noRegion>69500 Bron</wicri:noRegion>
<wicri:noRegion>69500 Bron</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tyni, Tiina" sort="Tyni, Tiina" uniqKey="Tyni T" first="Tiina" last="Tyni">Tiina Tyni</name>
<affiliation wicri:level="1"><nlm:aff id="aff26">Department of Pediatric Neurology, Hospital for Children and Adolescence, Helsinki University Central Hospital, 280 Helsinki, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Pediatric Neurology, Hospital for Children and Adolescence, Helsinki University Central Hospital, 280 Helsinki</wicri:regionArea>
<wicri:noRegion>280 Helsinki</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boneh, Avihu" sort="Boneh, Avihu" uniqKey="Boneh A" first="Avihu" last="Boneh">Avihu Boneh</name>
<affiliation wicri:level="4"><nlm:aff id="aff27">Murdoch Childrens Research Institute and University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Murdoch Childrens Research Institute and University of Melbourne, Melbourne, VIC 3010</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<affiliation wicri:level="4"><nlm:aff id="aff2">Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Technische Universität München, 81675 Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université technique de Munich</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg</wicri:regionArea>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M." last="Strom">Tim M. Strom</name>
<affiliation wicri:level="4"><nlm:aff id="aff2">Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Technische Universität München, 81675 Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université technique de Munich</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg</wicri:regionArea>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gregersen, Niels" sort="Gregersen, Niels" uniqKey="Gregersen N" first="Niels" last="Gregersen">Niels Gregersen</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and University Hospital, 8200 Aarhus N, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and University Hospital, 8200 Aarhus N</wicri:regionArea>
<wicri:noRegion>8200 Aarhus N</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mayr, Johannes A" sort="Mayr, Johannes A" uniqKey="Mayr J" first="Johannes A." last="Mayr">Johannes A. Mayr</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, 5020 Salzburg, Austria</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, 5020 Salzburg</wicri:regionArea>
<wicri:noRegion>5020 Salzburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Horvath, Rita" sort="Horvath, Rita" uniqKey="Horvath R" first="Rita" last="Horvath">Rita Horvath</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne NE1 3BZ</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Barile, Maria" sort="Barile, Maria" uniqKey="Barile M" first="Maria" last="Barile">Maria Barile</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari Aldo Moro, 70125 Bari, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari Aldo Moro, 70125 Bari</wicri:regionArea>
<wicri:noRegion>70125 Bari</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
<affiliation wicri:level="4"><nlm:aff id="aff2">Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Technische Universität München, 81675 Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université technique de Munich</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg</wicri:regionArea>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
<wicri:noRegion>85764 Neuherberg</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Blotting, Western</term>
<term>Case-Control Studies</term>
<term>Cells, Cultured</term>
<term>Electron Transport</term>
<term>Female</term>
<term>Fibroblasts (drug effects)</term>
<term>Fibroblasts (metabolism)</term>
<term>Fibroblasts (pathology)</term>
<term>Flavin-Adenine Dinucleotide (metabolism)</term>
<term>Frameshift Mutation (genetics)</term>
<term>Gene Expression Profiling</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Liver (drug effects)</term>
<term>Liver (metabolism)</term>
<term>Liver (pathology)</term>
<term>Male</term>
<term>Mitochondrial Diseases (drug therapy)</term>
<term>Mitochondrial Diseases (genetics)</term>
<term>Mitochondrial Diseases (pathology)</term>
<term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency (drug therapy)</term>
<term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency (genetics)</term>
<term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency (pathology)</term>
<term>Muscle, Skeletal (drug effects)</term>
<term>Muscle, Skeletal (metabolism)</term>
<term>Muscle, Skeletal (pathology)</term>
<term>Mutagenesis, Site-Directed</term>
<term>Nucleotidyltransferases (genetics)</term>
<term>Protein Binding</term>
<term>RNA, Messenger (genetics)</term>
<term>Real-Time Polymerase Chain Reaction</term>
<term>Reverse Transcriptase Polymerase Chain Reaction</term>
<term>Riboflavin (pharmacology)</term>
<term>Skin (drug effects)</term>
<term>Skin (metabolism)</term>
<term>Skin (pathology)</term>
<term>Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization</term>
<term>Vitamin B Complex (pharmacology)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>ARN messager (génétique)</term>
<term>Adulte</term>
<term>Analyse de profil d'expression de gènes</term>
<term>Cellules cultivées</term>
<term>Complexe vitaminique B (pharmacologie)</term>
<term>Déficit multiple en acyl CoA déshydrogénase (anatomopathologie)</term>
<term>Déficit multiple en acyl CoA déshydrogénase (génétique)</term>
<term>Déficit multiple en acyl CoA déshydrogénase (traitement médicamenteux)</term>
<term>Femelle</term>
<term>Fibroblastes ()</term>
<term>Fibroblastes (anatomopathologie)</term>
<term>Fibroblastes (métabolisme)</term>
<term>Flavine adénine dinucléotide (métabolisme)</term>
<term>Foie ()</term>
<term>Foie (anatomopathologie)</term>
<term>Foie (métabolisme)</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Liaison aux protéines</term>
<term>Maladies mitochondriales (anatomopathologie)</term>
<term>Maladies mitochondriales (génétique)</term>
<term>Maladies mitochondriales (traitement médicamenteux)</term>
<term>Muscles squelettiques ()</term>
<term>Muscles squelettiques (anatomopathologie)</term>
<term>Muscles squelettiques (métabolisme)</term>
<term>Mutagenèse dirigée</term>
<term>Mutation avec décalage du cadre de lecture (génétique)</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Nucleotidyltransferases (génétique)</term>
<term>Peau ()</term>
<term>Peau (anatomopathologie)</term>
<term>Peau (métabolisme)</term>
<term>RT-PCR</term>
<term>Riboflavine (pharmacologie)</term>
<term>Réaction de polymérisation en chaine en temps réel</term>
<term>Spectrométrie de masse MALDI</term>
<term>Technique de Western</term>
<term>Transfert d'électrons</term>
<term>Études cas-témoins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nucleotidyltransferases</term>
<term>RNA, Messenger</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Flavin-Adenine Dinucleotide</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Déficit multiple en acyl CoA déshydrogénase</term>
<term>Fibroblastes</term>
<term>Foie</term>
<term>Maladies mitochondriales</term>
<term>Muscles squelettiques</term>
<term>Peau</term>
</keywords>
<keywords scheme="MESH" qualifier="drug effects" xml:lang="en"><term>Fibroblasts</term>
<term>Liver</term>
<term>Muscle, Skeletal</term>
<term>Skin</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Mitochondrial Diseases</term>
<term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Frameshift Mutation</term>
<term>Mitochondrial Diseases</term>
<term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>ARN messager</term>
<term>Déficit multiple en acyl CoA déshydrogénase</term>
<term>Maladies mitochondriales</term>
<term>Mutation avec décalage du cadre de lecture</term>
<term>Nucleotidyltransferases</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Fibroblasts</term>
<term>Liver</term>
<term>Muscle, Skeletal</term>
<term>Skin</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Fibroblastes</term>
<term>Flavine adénine dinucléotide</term>
<term>Foie</term>
<term>Muscles squelettiques</term>
<term>Peau</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Fibroblasts</term>
<term>Liver</term>
<term>Mitochondrial Diseases</term>
<term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency</term>
<term>Muscle, Skeletal</term>
<term>Skin</term>
</keywords>
<keywords scheme="MESH" qualifier="pharmacologie" xml:lang="fr"><term>Complexe vitaminique B</term>
<term>Riboflavine</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="pharmacology" xml:lang="en"><term>Riboflavin</term>
<term>Vitamin B Complex</term>
</keywords>
<keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Déficit multiple en acyl CoA déshydrogénase</term>
<term>Maladies mitochondriales</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Blotting, Western</term>
<term>Case-Control Studies</term>
<term>Cells, Cultured</term>
<term>Electron Transport</term>
<term>Female</term>
<term>Gene Expression Profiling</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Mutagenesis, Site-Directed</term>
<term>Protein Binding</term>
<term>Real-Time Polymerase Chain Reaction</term>
<term>Reverse Transcriptase Polymerase Chain Reaction</term>
<term>Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Analyse de profil d'expression de gènes</term>
<term>Cellules cultivées</term>
<term>Femelle</term>
<term>Fibroblastes</term>
<term>Foie</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Liaison aux protéines</term>
<term>Muscles squelettiques</term>
<term>Mutagenèse dirigée</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Peau</term>
<term>RT-PCR</term>
<term>Réaction de polymérisation en chaine en temps réel</term>
<term>Spectrométrie de masse MALDI</term>
<term>Technique de Western</term>
<term>Transfert d'électrons</term>
<term>Études cas-témoins</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the genetic basis of MADD, a number of cases remain unexplained. Here, we report clinically relevant variants in <italic>FLAD1</italic>
, which encodes FAD synthase (FADS), as the cause of MADD and respiratory-chain dysfunction in nine individuals recruited from metabolic centers in six countries. In most individuals, we identified biallelic frameshift variants in the molybdopterin binding (MPTb) domain, located upstream of the FADS domain. Inasmuch as FADS is essential for cellular supply of FAD cofactors, the finding of biallelic frameshift variants was unexpected. Using RNA sequencing analysis combined with protein mass spectrometry, we discovered <italic>FLAD1</italic>
isoforms, which only encode the FADS domain. The existence of these isoforms might explain why affected individuals with biallelic <italic>FLAD1</italic>
frameshift variants still harbor substantial FADS activity. Another group of individuals with a milder phenotype responsive to riboflavin were shown to have single amino acid changes in the FADS domain. When produced in <italic>E. coli,</italic>
these mutant FADS proteins resulted in impaired but detectable FADS activity; for one of the variant proteins, the addition of FAD significantly improved protein stability, arguing for a chaperone-like action similar to what has been reported in other riboflavin-responsive inborn errors of metabolism. In conclusion, our studies identify <italic>FLAD1</italic>
variants as a cause of potentially treatable inborn errors of metabolism manifesting with MADD and shed light on the mechanisms by which FADS ensures cellular FAD homeostasis.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Autriche</li>
<li>Danemark</li>
<li>Espagne</li>
<li>Finlande</li>
<li>France</li>
<li>Italie</li>
<li>Royaume-Uni</li>
<li>Turquie</li>
</country>
<region><li>Angleterre</li>
<li>Angleterre de l'Est</li>
<li>Bavière</li>
<li>District de Haute-Bavière</li>
<li>Latium</li>
<li>Lombardie</li>
<li>Victoria (État)</li>
<li>Vienne (Autriche)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Cambridge</li>
<li>Melbourne</li>
<li>Milan</li>
<li>Munich</li>
<li>Paris</li>
<li>Rome</li>
<li>Vienne (Autriche)</li>
</settlement>
<orgName><li>Université de Cambridge</li>
<li>Université de Melbourne</li>
<li>Université technique de Munich</li>
</orgName>
</list>
<tree><country name="Danemark"><noRegion><name sortKey="Olsen, Rikke K J" sort="Olsen, Rikke K J" uniqKey="Olsen R" first="Rikke K. J." last="Olsen">Rikke K. J. Olsen</name>
</noRegion>
<name sortKey="Gregersen, Niels" sort="Gregersen, Niels" uniqKey="Gregersen N" first="Niels" last="Gregersen">Niels Gregersen</name>
<name sortKey="Mosegaard, Signe" sort="Mosegaard, Signe" uniqKey="Mosegaard S" first="Signe" last="Mosegaard">Signe Mosegaard</name>
<name sortKey="Palmfeldt, Johan" sort="Palmfeldt, Johan" uniqKey="Palmfeldt J" first="Johan" last="Palmfeldt">Johan Palmfeldt</name>
</country>
<country name="Allemagne"><region name="Bavière"><name sortKey="Ko A Kova, Eliska" sort="Ko A Kova, Eliska" uniqKey="Ko A Kova E" first="Eliška" last="Ko A Ková">Eliška Ko A Ková</name>
</region>
<name sortKey="Graf, Elisabeth" sort="Graf, Elisabeth" uniqKey="Graf E" first="Elisabeth" last="Graf">Elisabeth Graf</name>
<name sortKey="Haack, Tobias B" sort="Haack, Tobias B" uniqKey="Haack T" first="Tobias B." last="Haack">Tobias B. Haack</name>
<name sortKey="Haack, Tobias B" sort="Haack, Tobias B" uniqKey="Haack T" first="Tobias B." last="Haack">Tobias B. Haack</name>
<name sortKey="Ko A Kova, Eliska" sort="Ko A Kova, Eliska" uniqKey="Ko A Kova E" first="Eliška" last="Ko A Ková">Eliška Ko A Ková</name>
<name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
<name sortKey="Prokisch, Holger" sort="Prokisch, Holger" uniqKey="Prokisch H" first="Holger" last="Prokisch">Holger Prokisch</name>
<name sortKey="Schwarzmayr, Thomas" sort="Schwarzmayr, Thomas" uniqKey="Schwarzmayr T" first="Thomas" last="Schwarzmayr">Thomas Schwarzmayr</name>
<name sortKey="Schwarzmayr, Thomas" sort="Schwarzmayr, Thomas" uniqKey="Schwarzmayr T" first="Thomas" last="Schwarzmayr">Thomas Schwarzmayr</name>
<name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M." last="Strom">Tim M. Strom</name>
<name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M." last="Strom">Tim M. Strom</name>
<name sortKey="Terrile, Caterina" sort="Terrile, Caterina" uniqKey="Terrile C" first="Caterina" last="Terrile">Caterina Terrile</name>
</country>
<country name="Italie"><noRegion><name sortKey="Giancaspero, Teresa A" sort="Giancaspero, Teresa A" uniqKey="Giancaspero T" first="Teresa A." last="Giancaspero">Teresa A. Giancaspero</name>
</noRegion>
<name sortKey="Barile, Maria" sort="Barile, Maria" uniqKey="Barile M" first="Maria" last="Barile">Maria Barile</name>
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<name sortKey="Galluccio, Michele" sort="Galluccio, Michele" uniqKey="Galluccio M" first="Michele" last="Galluccio">Michele Galluccio</name>
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<name sortKey="Imbard, Apolline" sort="Imbard, Apolline" uniqKey="Imbard A" first="Apolline" last="Imbard">Apolline Imbard</name>
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<name sortKey="Schiff, Manuel" sort="Schiff, Manuel" uniqKey="Schiff M" first="Manuel" last="Schiff">Manuel Schiff</name>
<name sortKey="Schiff, Manuel" sort="Schiff, Manuel" uniqKey="Schiff M" first="Manuel" last="Schiff">Manuel Schiff</name>
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<name sortKey="Topaloglu, Haluk" sort="Topaloglu, Haluk" uniqKey="Topaloglu H" first="Haluk" last="Topaloglu">Haluk Topaloglu</name>
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<country name="Australie"><region name="Victoria (État)"><name sortKey="Boneh, Avihu" sort="Boneh, Avihu" uniqKey="Boneh A" first="Avihu" last="Boneh">Avihu Boneh</name>
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