Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
Identifieur interne : 004892 ( Main/Merge ); précédent : 004891; suivant : 004893Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
Auteurs : Jennifer R. L. Friedman [États-Unis] ; Elizabeth A. Thiele [États-Unis] ; Dong Wang [États-Unis] ; Kara B. Levine [États-Unis] ; Erin K. Cloherty [États-Unis] ; Heidi H. Pfeifer [États-Unis] ; Darryl C. De Vivo [États-Unis] ; Anthony Carruthers [États-Unis] ; Marvin R. Natowicz [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-02.
English descriptors
- KwdEn :
- Athetosis (diagnosis), Athetosis (diet therapy), Athetosis (genetics), Blood Glucose (metabolism), Child, Chorea (diagnosis), Chorea (diet therapy), Chorea (genetics), Developmental Disabilities (diagnosis), Developmental Disabilities (diet therapy), Developmental Disabilities (genetics), Dietary Fats (administration & dosage), Erythrocyte Membrane (metabolism), Glucose Transporter Type 1 (deficiency), Glucose Transporter Type 1 (genetics), Heterozygote Detection, Humans, Male, Microcephaly (diagnosis), Microcephaly (diet therapy), Microcephaly (genetics), Movement Disorders (diagnosis), Movement Disorders (diet therapy), Movement Disorders (genetics), Mutagenesis, Insertional, Seizures (diet therapy), Seizures (genetics), ataxia, choreoathetosis, dystonia, glucose transport protein, glut1, hypoglycorrhacia, ketogenic diet, movement disorder.
- MESH :
- chemical , administration & dosage : Dietary Fats.
- chemical , deficiency : Glucose Transporter Type 1.
- chemical , genetics : Glucose Transporter Type 1.
- chemical , metabolism : Blood Glucose.
- diagnosis : Athetosis, Chorea, Developmental Disabilities, Microcephaly, Movement Disorders.
- diet therapy : Athetosis, Chorea, Developmental Disabilities, Microcephaly, Movement Disorders, Seizures.
- genetics : Athetosis, Chorea, Developmental Disabilities, Microcephaly, Movement Disorders, Seizures.
- metabolism : Erythrocyte Membrane.
- Child, Heterozygote Detection, Humans, Male, Mutagenesis, Insertional.
Abstract
Glucose transport protein deficiency due to mutation in the GLUT1 gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10‐year‐old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20660
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<term>Athetosis (diet therapy)</term>
<term>Athetosis (genetics)</term>
<term>Blood Glucose (metabolism)</term>
<term>Child</term>
<term>Chorea (diagnosis)</term>
<term>Chorea (diet therapy)</term>
<term>Chorea (genetics)</term>
<term>Developmental Disabilities (diagnosis)</term>
<term>Developmental Disabilities (diet therapy)</term>
<term>Developmental Disabilities (genetics)</term>
<term>Dietary Fats (administration & dosage)</term>
<term>Erythrocyte Membrane (metabolism)</term>
<term>Glucose Transporter Type 1 (deficiency)</term>
<term>Glucose Transporter Type 1 (genetics)</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Microcephaly (diagnosis)</term>
<term>Microcephaly (diet therapy)</term>
<term>Microcephaly (genetics)</term>
<term>Movement Disorders (diagnosis)</term>
<term>Movement Disorders (diet therapy)</term>
<term>Movement Disorders (genetics)</term>
<term>Mutagenesis, Insertional</term>
<term>Seizures (diet therapy)</term>
<term>Seizures (genetics)</term>
<term>ataxia</term>
<term>choreoathetosis</term>
<term>dystonia</term>
<term>glucose transport protein</term>
<term>glut1</term>
<term>hypoglycorrhacia</term>
<term>ketogenic diet</term>
<term>movement disorder</term>
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<term>Chorea</term>
<term>Developmental Disabilities</term>
<term>Microcephaly</term>
<term>Movement Disorders</term>
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<keywords scheme="MESH" qualifier="diet therapy" xml:lang="en"><term>Athetosis</term>
<term>Chorea</term>
<term>Developmental Disabilities</term>
<term>Microcephaly</term>
<term>Movement Disorders</term>
<term>Seizures</term>
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<term>Movement Disorders</term>
<term>Seizures</term>
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<front><div type="abstract" xml:lang="en">Glucose transport protein deficiency due to mutation in the GLUT1 gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10‐year‐old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders. © 2005 Movement Disorder Society</div>
</front>
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<author><name sortKey="Thiele, Elizabeth A" sort="Thiele, Elizabeth A" uniqKey="Thiele E" first="Elizabeth A." last="Thiele">Elizabeth A. Thiele</name>
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<idno type="DOI">10.1002/mds.20660</idno>
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<term>choreoathetosis</term>
<term>dystonia</term>
<term>glucose transport protein</term>
<term>glut1</term>
<term>hypoglycorrhacia</term>
<term>ketogenic diet</term>
<term>movement disorder</term>
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<front><div type="abstract" xml:lang="en">Glucose transport protein deficiency due to mutation in the GLUT1 gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10‐year‐old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders. © 2005 Movement Disorder Society</div>
</front>
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<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.</title>
<author><name sortKey="Friedman, Jennifer R L" sort="Friedman, Jennifer R L" uniqKey="Friedman J" first="Jennifer R L" last="Friedman">Jennifer R L. Friedman</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, and Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA. jfriedma@helix.mgh.harvard.edu</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, and Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY</wicri:regionArea>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
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<author><name sortKey="Thiele, Elizabeth A" sort="Thiele, Elizabeth A" uniqKey="Thiele E" first="Elizabeth A" last="Thiele">Elizabeth A. Thiele</name>
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<author><name sortKey="Wang, Dong" sort="Wang, Dong" uniqKey="Wang D" first="Dong" last="Wang">Dong Wang</name>
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<author><name sortKey="Levine, Kara B" sort="Levine, Kara B" uniqKey="Levine K" first="Kara B" last="Levine">Kara B. Levine</name>
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<author><name sortKey="Cloherty, Erin K" sort="Cloherty, Erin K" uniqKey="Cloherty E" first="Erin K" last="Cloherty">Erin K. Cloherty</name>
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<author><name sortKey="Pfeifer, Heidi H" sort="Pfeifer, Heidi H" uniqKey="Pfeifer H" first="Heidi H" last="Pfeifer">Heidi H. Pfeifer</name>
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<author><name sortKey="De Vivo, Darryl C" sort="De Vivo, Darryl C" uniqKey="De Vivo D" first="Darryl C" last="De Vivo">Darryl C. De Vivo</name>
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<author><name sortKey="Carruthers, Anthony" sort="Carruthers, Anthony" uniqKey="Carruthers A" first="Anthony" last="Carruthers">Anthony Carruthers</name>
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<author><name sortKey="Natowicz, Marvin R" sort="Natowicz, Marvin R" uniqKey="Natowicz M" first="Marvin R" last="Natowicz">Marvin R. Natowicz</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.</title>
<author><name sortKey="Friedman, Jennifer R L" sort="Friedman, Jennifer R L" uniqKey="Friedman J" first="Jennifer R L" last="Friedman">Jennifer R L. Friedman</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, and Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA. jfriedma@helix.mgh.harvard.edu</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, and Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY</wicri:regionArea>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
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<author><name sortKey="Thiele, Elizabeth A" sort="Thiele, Elizabeth A" uniqKey="Thiele E" first="Elizabeth A" last="Thiele">Elizabeth A. Thiele</name>
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<author><name sortKey="Wang, Dong" sort="Wang, Dong" uniqKey="Wang D" first="Dong" last="Wang">Dong Wang</name>
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<author><name sortKey="Levine, Kara B" sort="Levine, Kara B" uniqKey="Levine K" first="Kara B" last="Levine">Kara B. Levine</name>
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<author><name sortKey="Cloherty, Erin K" sort="Cloherty, Erin K" uniqKey="Cloherty E" first="Erin K" last="Cloherty">Erin K. Cloherty</name>
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<author><name sortKey="Pfeifer, Heidi H" sort="Pfeifer, Heidi H" uniqKey="Pfeifer H" first="Heidi H" last="Pfeifer">Heidi H. Pfeifer</name>
</author>
<author><name sortKey="De Vivo, Darryl C" sort="De Vivo, Darryl C" uniqKey="De Vivo D" first="Darryl C" last="De Vivo">Darryl C. De Vivo</name>
</author>
<author><name sortKey="Carruthers, Anthony" sort="Carruthers, Anthony" uniqKey="Carruthers A" first="Anthony" last="Carruthers">Anthony Carruthers</name>
</author>
<author><name sortKey="Natowicz, Marvin R" sort="Natowicz, Marvin R" uniqKey="Natowicz M" first="Marvin R" last="Natowicz">Marvin R. Natowicz</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2006" type="published">2006</date>
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<term>Athetosis (diet therapy)</term>
<term>Athetosis (genetics)</term>
<term>Blood Glucose (metabolism)</term>
<term>Child</term>
<term>Chorea (diagnosis)</term>
<term>Chorea (diet therapy)</term>
<term>Chorea (genetics)</term>
<term>Developmental Disabilities (diagnosis)</term>
<term>Developmental Disabilities (diet therapy)</term>
<term>Developmental Disabilities (genetics)</term>
<term>Dietary Fats (administration & dosage)</term>
<term>Erythrocyte Membrane (metabolism)</term>
<term>Glucose Transporter Type 1 (deficiency)</term>
<term>Glucose Transporter Type 1 (genetics)</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Microcephaly (diagnosis)</term>
<term>Microcephaly (diet therapy)</term>
<term>Microcephaly (genetics)</term>
<term>Movement Disorders (diagnosis)</term>
<term>Movement Disorders (diet therapy)</term>
<term>Movement Disorders (genetics)</term>
<term>Mutagenesis, Insertional</term>
<term>Seizures (diet therapy)</term>
<term>Seizures (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>Dietary Fats</term>
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<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Blood Glucose</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Athetosis</term>
<term>Chorea</term>
<term>Developmental Disabilities</term>
<term>Microcephaly</term>
<term>Movement Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="diet therapy" xml:lang="en"><term>Athetosis</term>
<term>Chorea</term>
<term>Developmental Disabilities</term>
<term>Microcephaly</term>
<term>Movement Disorders</term>
<term>Seizures</term>
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<term>Chorea</term>
<term>Developmental Disabilities</term>
<term>Microcephaly</term>
<term>Movement Disorders</term>
<term>Seizures</term>
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</keywords>
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<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Mutagenesis, Insertional</term>
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<front><div type="abstract" xml:lang="en">Glucose transport protein deficiency due to mutation in the GLUT1 gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10-year-old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders.</div>
</front>
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