MovDisordV3, Main, Curation, bibRecord, 003577

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

Identifieur interne : 003577 ( Main/Curation ); précédent : 003576; suivant : 003578

Atypical 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.

RBID : ISTEX:8F619F98E89D4C765D247BD720C7A3358A7597A3

Descripteurs français

Pascal (Inist)
- Ataxie, Choréoathétose, Dystonie, Déficit, Glucose, Protéine, Système nerveux pathologie, Transport biologique, Transporteur glucose GLUT-1.
Wicri :
- topic : Déficit, Glucose.

English descriptors

KwdEn :
- Ataxia, Athetosis (diagnosis), Athetosis (diet therapy), Athetosis (genetics), Biological transport, Blood Glucose (metabolism), Child, Chorea (diagnosis), Chorea (diet therapy), Chorea (genetics), Choreoathetosis, Deficiency, Developmental Disabilities (diagnosis), Developmental Disabilities (diet therapy), Developmental Disabilities (genetics), Dietary Fats (administration & dosage), Dystonia, Erythrocyte Membrane (metabolism), GLUT-1 glucose transporter, Glucose, 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, Nervous system diseases, Protein, 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:

https://api.istex.fr/document/8F619F98E89D4C765D247BD720C7A3358A7597A3/fulltext/pdf

DOI: 10.1002/mds.20660

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ISTEX:8F619F98E89D4C765D247BD720C7A3358A7597A3

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term>
<term>Athetosis (diagnosis)</term>
<term>Athetosis (diet therapy)</term>
<term>Athetosis (genetics)</term>
<term>Biological transport</term>
<term>Blood Glucose (metabolism)</term>
<term>Child</term>
<term>Chorea (diagnosis)</term>
<term>Chorea (diet therapy)</term>
<term>Chorea (genetics)</term>
<term>Choreoathetosis</term>
<term>Deficiency</term>
<term>Developmental Disabilities (diagnosis)</term>
<term>Developmental Disabilities (diet therapy)</term>
<term>Developmental Disabilities (genetics)</term>
<term>Dietary Fats (administration & dosage)</term>
<term>Dystonia</term>
<term>Erythrocyte Membrane (metabolism)</term>
<term>GLUT-1 glucose transporter</term>
<term>Glucose</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>Nervous system diseases</term>
<term>Protein</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>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>Dietary Fats</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Glucose Transporter Type 1</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucose Transporter Type 1</term>
</keywords>
<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>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Athetosis</term>
<term>Chorea</term>
<term>Developmental Disabilities</term>
<term>Microcephaly</term>
<term>Movement Disorders</term>
<term>Seizures</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Erythrocyte Membrane</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Mutagenesis, Insertional</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Ataxie</term>
<term>Choréoathétose</term>
<term>Dystonie</term>
<term>Déficit</term>
<term>Glucose</term>
<term>Protéine</term>
<term>Système nerveux pathologie</term>
<term>Transport biologique</term>
<term>Transporteur glucose GLUT-1</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Déficit</term>
<term>Glucose</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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</inist:fA14>
<country>États-Unis</country>
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</placeName>
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</affiliation>
</author>
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</affiliation>
</author>
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<s3>USA</s3>
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<s2>New York, New York</s2>
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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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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term>
<term>Biological transport</term>
<term>Choreoathetosis</term>
<term>Deficiency</term>
<term>Dystonia</term>
<term>GLUT-1 glucose transporter</term>
<term>Glucose</term>
<term>Nervous system diseases</term>
<term>Protein</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Déficit</term>
<term>Dystonie</term>
<term>Choréoathétose</term>
<term>Ataxie</term>
<term>Glucose</term>
<term>Transport biologique</term>
<term>Protéine</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>
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<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>
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<term>Movement Disorders (diagnosis)</term>
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<term>Movement Disorders (genetics)</term>
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<term>Chorea</term>
<term>Developmental Disabilities</term>
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<term>Movement Disorders</term>
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<term>Chorea</term>
<term>Developmental Disabilities</term>
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<term>Movement Disorders</term>
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<term>Chorea</term>
<term>Developmental Disabilities</term>
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<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. © 2005 Movement Disorder Society</div>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

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