Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.

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.

• Authors: Jennifer R L Friedman, Elizabeth A Thiele, Dong Wang, Kara B Levine, Erin K Cloherty, Heidi H Pfeifer, Darryl C De Vivo, Anthony Carruthers, Marvin R Natowicz
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 21 Issue 2 Pg. 241-5 (Feb 2006) ISSN: 0885-3185 [Print] United States
• PMID: 16149086 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)
• Copyright: Copyright (c) 2005 Movement Disorder Society.

Chemical References

• Blood Glucose
• Dietary Fats
• Glucose Transporter Type 1
• SLC2A1 protein, human

Topics

• Athetosis (diagnosis, diet therapy, genetics)
• Blood Glucose (metabolism)
• Child
• Chorea (diagnosis, diet therapy, genetics)
• Developmental Disabilities (diagnosis, diet therapy, genetics)
• Dietary Fats (administration & dosage)
• Erythrocyte Membrane (metabolism)
• Genetic Carrier Screening
• Glucose Transporter Type 1 (deficiency, genetics)
• Humans
• Male
• Microcephaly (diagnosis, diet therapy, genetics)
• Movement Disorders (diagnosis, diet therapy, genetics)
• Mutagenesis, Insertional
• Seizures (diet therapy, genetics)