Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
Identifieur interne : 004D19 ( Main/Merge ); précédent : 004D18; suivant : 004D20Atypical 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.
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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.
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet</title>
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<series><title level="j" type="main">Movement disorders</title>
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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>
<term>Transporteur glucose GLUT-1</term>
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<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Déficit</term>
<term>Glucose</term>
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</teiHeader>
<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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<name sortKey="Dong Wang" sort="Dong Wang" uniqKey="Dong Wang" last="Dong Wang">DONG WANG</name>
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