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Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
- Source :
-
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2006 Feb; Vol. 21 (2), pp. 241-5. - Publication Year :
- 2006
-
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.<br /> (Copyright (c) 2005 Movement Disorder Society.)
- Subjects :
- 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
Erythrocyte Membrane metabolism
Genetic Carrier Screening
Glucose Transporter Type 1 genetics
Humans
Male
Microcephaly diagnosis
Microcephaly diet therapy
Movement Disorders diagnosis
Movement Disorders diet therapy
Mutagenesis, Insertional
Seizures diet therapy
Developmental Disabilities genetics
Dietary Fats administration & dosage
Glucose Transporter Type 1 deficiency
Microcephaly genetics
Movement Disorders genetics
Seizures genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0885-3185
- Volume :
- 21
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Movement disorders : official journal of the Movement Disorder Society
- Publication Type :
- Academic Journal
- Accession number :
- 16149086
- Full Text :
- https://doi.org/10.1002/mds.20660