Oral D-galactose supplementation in PGM1-CDG.
Identifieur interne : 000673 ( Main/Exploration ); précédent : 000672; suivant : 000674Oral D-galactose supplementation in PGM1-CDG.
Auteurs : Sunnie Yan-Wai Wong [États-Unis] ; Therese Gadomski [États-Unis] ; Monique Van Scherpenzeel [Pays-Bas] ; Tomas Honzik [République tchèque] ; Hana Hansikova [République tchèque] ; Katja S Brocke Holmefjord [Norvège] ; Marit Mork [Norvège] ; Francis Bowling [Australie] ; Jolanta Sykut-Cegielska [Pologne] ; Dieter Koch [Allemagne] ; Jozef Hertecant [Émirats arabes unis] ; Graeme Preston [États-Unis] ; Jaak Jaeken [Belgique] ; Nicole Peeters [États-Unis] ; Stefanie Perez [États-Unis] ; David Do Nguyen [États-Unis] ; Kea Crivelly [États-Unis] ; Tim Emmerzaal [Pays-Bas] ; K Michael Gibson [États-Unis] ; Kimiyo Raymond [États-Unis] ; Nurulamin Abu Bakar [Pays-Bas] ; Francois Foulquier [France] ; Gernot Poschet [Allemagne] ; Amanda M. Ackermann [États-Unis] ; Miao He [États-Unis] ; Dirk J. Lefeber [Pays-Bas] ; Christian Thiel [Allemagne] ; Tamas Kozicz [États-Unis] ; Eva Morava [États-Unis]Source :
- Genetics in medicine : official journal of the American College of Medical Genetics [ 1530-0366 ] ; 2017.
Abstract
PurposePhosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports in PGM1-CDG patients receiving oral D-galactose (D-gal) showed clinical improvement. So far no systematic in vitro and clinical studies have assessed safety and benefits of D-gal supplementation. In a prospective pilot study, we evaluated the effects of oral D-gal in nine patients.MethodsD-gal supplementation was increased to 1.5 g/kg/day (maximum 50 g/day) in three increments over 18 weeks. Laboratory studies were performed before and during treatment to monitor safety and effect on serum transferrin-glycosylation, coagulation, and liver and endocrine function. Additionally, the effect of D-gal on cellular glycosylation was characterized in vitro.ResultsEight patients were compliant with D-gal supplementation. No adverse effects were reported. Abnormal baseline results (alanine transaminase, aspartate transaminase, activated partial thromboplastin time) improved or normalized already using 1 g/kg/day D-gal. Antithrombin-III levels and transferrin-glycosylation showed significant improvement, and increase in galactosylation and whole glycan content. In vitro studies before treatment showed N-glycan hyposialylation, altered O-linked glycans, abnormal lipid-linked oligosaccharide profile, and abnormal nucleotide sugars in patient fibroblasts. Most cellular abnormalities improved or normalized following D-gal treatment. D-gal increased both UDP-Glc and UDP-Gal levels and improved lipid-linked oligosaccharide fractions in concert with improved glycosylation in PGM1-CDG.ConclusionOral D-gal supplementation is a safe and effective treatment for PGM1-CDG in this pilot study. Transferrin glycosylation and ATIII levels were useful trial end points. Larger, longer-duration trials are ongoing.
DOI: 10.1038/gim.2017.41
PubMed: 28617415
Affiliations:
- Allemagne, Australie, Belgique, France, Norvège, Pays-Bas, Pologne, République tchèque, Émirats arabes unis, États-Unis
- Bade-Wurtemberg, Bohême centrale, District de Karlsruhe, Gueldre, Hauts-de-France, Louisiane, Minnesota, Nord-Pas-de-Calais, Pennsylvanie, Washington (État)
- Heidelberg, Lille, Nimègue, Prague
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uniqKey="Emmerzaal T" first="Tim" last="Emmerzaal">Tim Emmerzaal</name><affiliation wicri:level="3"><nlm:affiliation>Department of Anatomy, Radboud University Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Anatomy, Radboud University Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Gibson, K Michael" sort="Gibson, K Michael" uniqKey="Gibson K" first="K Michael" last="Gibson">K Michael Gibson</name><affiliation wicri:level="2"><nlm:affiliation>Washington State University College of Pharmacy, Spokane, Washington, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Washington State University College of Pharmacy, Spokane, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Raymond, Kimiyo" sort="Raymond, Kimiyo" uniqKey="Raymond K" first="Kimiyo" last="Raymond">Kimiyo Raymond</name><affiliation wicri:level="2"><nlm:affiliation>Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Abu Bakar, Nurulamin" sort="Abu Bakar, Nurulamin" uniqKey="Abu Bakar N" first="Nurulamin" last="Abu Bakar">Nurulamin Abu Bakar</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Foulquier, Francois" sort="Foulquier, Francois" uniqKey="Foulquier F" first="Francois" last="Foulquier">Francois Foulquier</name><affiliation wicri:level="3"><nlm:affiliation>University Lille, CNRS, UMR 8576-UGSF-Unité de Glycobiologie Structurale et Fonctionnelle, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>University Lille, CNRS, UMR 8576-UGSF-Unité de Glycobiologie Structurale et Fonctionnelle, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Poschet, Gernot" sort="Poschet, Gernot" uniqKey="Poschet G" first="Gernot" last="Poschet">Gernot Poschet</name><affiliation wicri:level="3"><nlm:affiliation>Centre for Organismal Studies (COS), University of Heidelberg, Heidelberg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Centre for Organismal Studies (COS), University of Heidelberg, Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Ackermann, Amanda M" sort="Ackermann, Amanda M" uniqKey="Ackermann A" first="Amanda M" last="Ackermann">Amanda M. Ackermann</name><affiliation wicri:level="2"><nlm:affiliation>Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="He, Miao" sort="He, Miao" uniqKey="He M" first="Miao" last="He">Miao He</name><affiliation wicri:level="2"><nlm:affiliation>Palmieri Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Palmieri Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Lefeber, Dirk J" sort="Lefeber, Dirk J" uniqKey="Lefeber D" first="Dirk J" last="Lefeber">Dirk J. Lefeber</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Thiel, Christian" sort="Thiel, Christian" uniqKey="Thiel C" first="Christian" last="Thiel">Christian Thiel</name><affiliation wicri:level="3"><nlm:affiliation>Center for Child and Adolescent Medicine, Kinderheilkunde I, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Child and Adolescent Medicine, Kinderheilkunde I, University of Heidelberg, Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Kozicz, Tamas" sort="Kozicz, Tamas" uniqKey="Kozicz T" first="Tamas" last="Kozicz">Tamas Kozicz</name><affiliation wicri:level="2"><nlm:affiliation>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author><author><name sortKey="Morava, Eva" sort="Morava, Eva" uniqKey="Morava E" first="Eva" last="Morava">Eva Morava</name><affiliation wicri:level="2"><nlm:affiliation>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28617415</idno><idno type="pmid">28617415</idno><idno type="doi">10.1038/gim.2017.41</idno><idno type="wicri:Area/PubMed/Corpus">000207</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000207</idno><idno type="wicri:Area/PubMed/Curation">000207</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000207</idno><idno type="wicri:Area/PubMed/Checkpoint">000207</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000207</idno><idno 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sortKey="Gadomski, Therese" sort="Gadomski, Therese" uniqKey="Gadomski T" first="Therese" last="Gadomski">Therese Gadomski</name><affiliation wicri:level="2"><nlm:affiliation>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author><author><name sortKey="Van Scherpenzeel, Monique" sort="Van Scherpenzeel, Monique" uniqKey="Van Scherpenzeel M" first="Monique" last="Van Scherpenzeel">Monique Van Scherpenzeel</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Honzik, Tomas" sort="Honzik, Tomas" uniqKey="Honzik T" first="Tomas" last="Honzik">Tomas Honzik</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.</nlm:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Hansikova, Hana" sort="Hansikova, Hana" uniqKey="Hansikova H" first="Hana" last="Hansikova">Hana Hansikova</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.</nlm:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Holmefjord, Katja S Brocke" sort="Holmefjord, Katja S Brocke" uniqKey="Holmefjord K" first="Katja S Brocke" last="Holmefjord">Katja S Brocke Holmefjord</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Habilitation, Stavanger University Hospital, Stavanger, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Pediatric Habilitation, Stavanger University Hospital, Stavanger</wicri:regionArea><wicri:noRegion>Stavanger</wicri:noRegion></affiliation></author><author><name sortKey="Mork, Marit" sort="Mork, Marit" uniqKey="Mork M" first="Marit" last="Mork">Marit Mork</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Habilitation, Stavanger University Hospital, Stavanger, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Pediatric Habilitation, Stavanger University Hospital, Stavanger</wicri:regionArea><wicri:noRegion>Stavanger</wicri:noRegion></affiliation></author><author><name sortKey="Bowling, Francis" sort="Bowling, Francis" uniqKey="Bowling F" first="Francis" last="Bowling">Francis Bowling</name><affiliation wicri:level="1"><nlm:affiliation>Biochemical Diseases, Mater Children's Hospital, South, Brisbane, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Biochemical Diseases, Mater Children's Hospital, South, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Sykut Cegielska, Jolanta" sort="Sykut Cegielska, Jolanta" uniqKey="Sykut Cegielska J" first="Jolanta" last="Sykut-Cegielska">Jolanta Sykut-Cegielska</name><affiliation wicri:level="1"><nlm:affiliation>Screening and Metabolic Diagnostics Department, The Institute of Mother and Child, Warsaw, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Screening and Metabolic Diagnostics Department, The Institute of Mother and Child, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Koch, Dieter" sort="Koch, Dieter" uniqKey="Koch D" first="Dieter" last="Koch">Dieter Koch</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Cardiology, Bergisch Gladbacher Koln, Koln, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Pediatric Cardiology, Bergisch Gladbacher Koln, Koln</wicri:regionArea><wicri:noRegion>Koln</wicri:noRegion><wicri:noRegion>Koln</wicri:noRegion><wicri:noRegion>Koln</wicri:noRegion></affiliation></author><author><name sortKey="Hertecant, Jozef" sort="Hertecant, Jozef" uniqKey="Hertecant J" first="Jozef" last="Hertecant">Jozef Hertecant</name><affiliation wicri:level="1"><nlm:affiliation>Genetics/Metabolics Service, Tawam Hospital, Al Ain, United Arab Emirates.</nlm:affiliation><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Genetics/Metabolics Service, Tawam Hospital, Al Ain</wicri:regionArea><wicri:noRegion>Al Ain</wicri:noRegion></affiliation></author><author><name sortKey="Preston, Graeme" sort="Preston, Graeme" uniqKey="Preston G" first="Graeme" last="Preston">Graeme Preston</name><affiliation wicri:level="2"><nlm:affiliation>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author><author><name sortKey="Jaeken, Jaak" sort="Jaeken, Jaak" uniqKey="Jaeken J" first="Jaak" last="Jaeken">Jaak Jaeken</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatrics, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Peeters, Nicole" sort="Peeters, Nicole" uniqKey="Peeters N" first="Nicole" last="Peeters">Nicole Peeters</name><affiliation wicri:level="2"><nlm:affiliation>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author><author><name sortKey="Perez, Stefanie" sort="Perez, Stefanie" uniqKey="Perez S" first="Stefanie" last="Perez">Stefanie Perez</name><affiliation wicri:level="2"><nlm:affiliation>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author><author><name sortKey="Nguyen, David Do" sort="Nguyen, David Do" uniqKey="Nguyen D" first="David Do" last="Nguyen">David Do Nguyen</name><affiliation wicri:level="2"><nlm:affiliation>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author><author><name sortKey="Crivelly, Kea" sort="Crivelly, Kea" uniqKey="Crivelly K" first="Kea" last="Crivelly">Kea Crivelly</name><affiliation wicri:level="2"><nlm:affiliation>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author><author><name sortKey="Emmerzaal, Tim" sort="Emmerzaal, Tim" uniqKey="Emmerzaal T" first="Tim" last="Emmerzaal">Tim Emmerzaal</name><affiliation wicri:level="3"><nlm:affiliation>Department of Anatomy, Radboud University Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Anatomy, Radboud University Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Gibson, K Michael" sort="Gibson, K Michael" uniqKey="Gibson K" first="K Michael" last="Gibson">K Michael Gibson</name><affiliation wicri:level="2"><nlm:affiliation>Washington State University College of Pharmacy, Spokane, Washington, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Washington State University College of Pharmacy, Spokane, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Raymond, Kimiyo" sort="Raymond, Kimiyo" uniqKey="Raymond K" first="Kimiyo" last="Raymond">Kimiyo Raymond</name><affiliation wicri:level="2"><nlm:affiliation>Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Abu Bakar, Nurulamin" sort="Abu Bakar, Nurulamin" uniqKey="Abu Bakar N" first="Nurulamin" last="Abu Bakar">Nurulamin Abu Bakar</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Foulquier, Francois" sort="Foulquier, Francois" uniqKey="Foulquier F" first="Francois" last="Foulquier">Francois Foulquier</name><affiliation wicri:level="3"><nlm:affiliation>University Lille, CNRS, UMR 8576-UGSF-Unité de Glycobiologie Structurale et Fonctionnelle, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>University Lille, CNRS, UMR 8576-UGSF-Unité de Glycobiologie Structurale et Fonctionnelle, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Poschet, Gernot" sort="Poschet, Gernot" uniqKey="Poschet G" first="Gernot" last="Poschet">Gernot Poschet</name><affiliation wicri:level="3"><nlm:affiliation>Centre for Organismal Studies (COS), University of Heidelberg, Heidelberg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Centre for Organismal Studies (COS), University of Heidelberg, Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Ackermann, Amanda M" sort="Ackermann, Amanda M" uniqKey="Ackermann A" first="Amanda M" last="Ackermann">Amanda M. Ackermann</name><affiliation wicri:level="2"><nlm:affiliation>Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="He, Miao" sort="He, Miao" uniqKey="He M" first="Miao" last="He">Miao He</name><affiliation wicri:level="2"><nlm:affiliation>Palmieri Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Palmieri Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Lefeber, Dirk J" sort="Lefeber, Dirk J" uniqKey="Lefeber D" first="Dirk J" last="Lefeber">Dirk J. Lefeber</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Thiel, Christian" sort="Thiel, Christian" uniqKey="Thiel C" first="Christian" last="Thiel">Christian Thiel</name><affiliation wicri:level="3"><nlm:affiliation>Center for Child and Adolescent Medicine, Kinderheilkunde I, University of Heidelberg, Heidelberg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Child and Adolescent Medicine, Kinderheilkunde I, University of Heidelberg, Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Kozicz, Tamas" sort="Kozicz, Tamas" uniqKey="Kozicz T" first="Tamas" last="Kozicz">Tamas Kozicz</name><affiliation wicri:level="2"><nlm:affiliation>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author><author><name sortKey="Morava, Eva" sort="Morava, Eva" uniqKey="Morava E" first="Eva" last="Morava">Eva Morava</name><affiliation wicri:level="2"><nlm:affiliation>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana</wicri:regionArea><placeName><region type="state">Louisiane</region></placeName></affiliation></author></analytic><series><title level="j">Genetics in medicine : official journal of the American College of Medical Genetics</title><idno type="eISSN">1530-0366</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">PurposePhosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports in PGM1-CDG patients receiving oral D-galactose (D-gal) showed clinical improvement. So far no systematic in vitro and clinical studies have assessed safety and benefits of D-gal supplementation. In a prospective pilot study, we evaluated the effects of oral D-gal in nine patients.MethodsD-gal supplementation was increased to 1.5 g/kg/day (maximum 50 g/day) in three increments over 18 weeks. Laboratory studies were performed before and during treatment to monitor safety and effect on serum transferrin-glycosylation, coagulation, and liver and endocrine function. Additionally, the effect of D-gal on cellular glycosylation was characterized in vitro.ResultsEight patients were compliant with D-gal supplementation. No adverse effects were reported. Abnormal baseline results (alanine transaminase, aspartate transaminase, activated partial thromboplastin time) improved or normalized already using 1 g/kg/day D-gal. Antithrombin-III levels and transferrin-glycosylation showed significant improvement, and increase in galactosylation and whole glycan content. In vitro studies before treatment showed N-glycan hyposialylation, altered O-linked glycans, abnormal lipid-linked oligosaccharide profile, and abnormal nucleotide sugars in patient fibroblasts. Most cellular abnormalities improved or normalized following D-gal treatment. D-gal increased both UDP-Glc and UDP-Gal levels and improved lipid-linked oligosaccharide fractions in concert with improved glycosylation in PGM1-CDG.ConclusionOral D-gal supplementation is a safe and effective treatment for PGM1-CDG in this pilot study. Transferrin glycosylation and ATIII levels were useful trial end points. Larger, longer-duration trials are ongoing.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</li><li>Norvège</li><li>Pays-Bas</li><li>Pologne</li><li>République tchèque</li><li>Émirats arabes unis</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>Bohême centrale</li><li>District de Karlsruhe</li><li>Gueldre</li><li>Hauts-de-France</li><li>Louisiane</li><li>Minnesota</li><li>Nord-Pas-de-Calais</li><li>Pennsylvanie</li><li>Washington (État)</li></region><settlement><li>Heidelberg</li><li>Lille</li><li>Nimègue</li><li>Prague</li></settlement></list><tree><country name="États-Unis"><region name="Louisiane"><name sortKey="Wong, Sunnie Yan Wai" sort="Wong, Sunnie Yan Wai" uniqKey="Wong S" first="Sunnie Yan-Wai" last="Wong">Sunnie Yan-Wai Wong</name></region><name sortKey="Ackermann, Amanda M" sort="Ackermann, Amanda M" uniqKey="Ackermann A" first="Amanda M" last="Ackermann">Amanda M. Ackermann</name><name sortKey="Crivelly, Kea" sort="Crivelly, Kea" uniqKey="Crivelly K" first="Kea" last="Crivelly">Kea Crivelly</name><name sortKey="Gadomski, Therese" sort="Gadomski, Therese" uniqKey="Gadomski T" first="Therese" last="Gadomski">Therese Gadomski</name><name sortKey="Gibson, K Michael" sort="Gibson, K Michael" uniqKey="Gibson K" first="K Michael" last="Gibson">K Michael Gibson</name><name sortKey="He, Miao" sort="He, Miao" uniqKey="He M" first="Miao" last="He">Miao He</name><name sortKey="Kozicz, Tamas" sort="Kozicz, Tamas" uniqKey="Kozicz T" first="Tamas" last="Kozicz">Tamas Kozicz</name><name sortKey="Morava, Eva" sort="Morava, Eva" uniqKey="Morava E" first="Eva" last="Morava">Eva Morava</name><name sortKey="Nguyen, David Do" sort="Nguyen, David Do" uniqKey="Nguyen D" first="David Do" last="Nguyen">David Do Nguyen</name><name sortKey="Peeters, Nicole" sort="Peeters, Nicole" uniqKey="Peeters N" first="Nicole" last="Peeters">Nicole Peeters</name><name sortKey="Perez, Stefanie" sort="Perez, Stefanie" uniqKey="Perez S" first="Stefanie" last="Perez">Stefanie Perez</name><name sortKey="Preston, Graeme" sort="Preston, Graeme" uniqKey="Preston G" first="Graeme" last="Preston">Graeme Preston</name><name sortKey="Raymond, Kimiyo" sort="Raymond, Kimiyo" uniqKey="Raymond K" first="Kimiyo" last="Raymond">Kimiyo Raymond</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Scherpenzeel, Monique" sort="Van Scherpenzeel, Monique" uniqKey="Van Scherpenzeel M" first="Monique" last="Van Scherpenzeel">Monique Van Scherpenzeel</name></region><name sortKey="Abu Bakar, Nurulamin" sort="Abu Bakar, Nurulamin" uniqKey="Abu Bakar N" first="Nurulamin" last="Abu Bakar">Nurulamin Abu Bakar</name><name sortKey="Emmerzaal, Tim" sort="Emmerzaal, Tim" uniqKey="Emmerzaal T" first="Tim" last="Emmerzaal">Tim Emmerzaal</name><name sortKey="Lefeber, Dirk J" sort="Lefeber, Dirk J" uniqKey="Lefeber D" first="Dirk J" last="Lefeber">Dirk J. Lefeber</name></country><country name="République tchèque"><region name="Bohême centrale"><name sortKey="Honzik, Tomas" sort="Honzik, Tomas" uniqKey="Honzik T" first="Tomas" last="Honzik">Tomas Honzik</name></region><name sortKey="Hansikova, Hana" sort="Hansikova, Hana" uniqKey="Hansikova H" first="Hana" last="Hansikova">Hana Hansikova</name></country><country name="Norvège"><noRegion><name sortKey="Holmefjord, Katja S Brocke" sort="Holmefjord, Katja S Brocke" uniqKey="Holmefjord K" first="Katja S Brocke" last="Holmefjord">Katja S Brocke Holmefjord</name></noRegion><name sortKey="Mork, Marit" sort="Mork, Marit" uniqKey="Mork M" first="Marit" last="Mork">Marit Mork</name></country><country name="Australie"><noRegion><name sortKey="Bowling, Francis" sort="Bowling, Francis" uniqKey="Bowling F" first="Francis" last="Bowling">Francis Bowling</name></noRegion></country><country name="Pologne"><noRegion><name sortKey="Sykut Cegielska, Jolanta" sort="Sykut Cegielska, Jolanta" uniqKey="Sykut Cegielska J" first="Jolanta" last="Sykut-Cegielska">Jolanta Sykut-Cegielska</name></noRegion></country><country name="Allemagne"><noRegion><name sortKey="Koch, Dieter" sort="Koch, Dieter" uniqKey="Koch D" first="Dieter" last="Koch">Dieter Koch</name></noRegion><name sortKey="Poschet, Gernot" sort="Poschet, Gernot" uniqKey="Poschet G" first="Gernot" last="Poschet">Gernot Poschet</name><name sortKey="Thiel, Christian" sort="Thiel, Christian" uniqKey="Thiel C" first="Christian" last="Thiel">Christian Thiel</name></country><country name="Émirats arabes unis"><noRegion><name sortKey="Hertecant, Jozef" sort="Hertecant, Jozef" uniqKey="Hertecant J" first="Jozef" last="Hertecant">Jozef Hertecant</name></noRegion></country><country name="Belgique"><noRegion><name sortKey="Jaeken, Jaak" sort="Jaeken, Jaak" uniqKey="Jaeken J" first="Jaak" last="Jaeken">Jaak Jaeken</name></noRegion></country><country name="France"><region name="Hauts-de-France"><name sortKey="Foulquier, Francois" sort="Foulquier, Francois" uniqKey="Foulquier F" first="Francois" last="Foulquier">Francois Foulquier</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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