1. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
- Author
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Friedman JR, Thiele EA, Wang D, Levine KB, Cloherty EK, Pfeifer HH, De Vivo DC, Carruthers A, and Natowicz MR
- 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
- 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., (Copyright (c) 2005 Movement Disorder Society.)
- Published
- 2006
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