GLUT-1 deficiency without epilepsy—an exceptional case
The GLUT-1 deficiency is a metabolic disorder caused by a defect in glucose transport across the blood–brain barrier as a result of a defect in the glucose-transport protein. Patients present with epileptic seizures, delayed development, ataxia and hypotonia, and in many cases acquired microcephaly. In most patients, treatment with a ketogenic diet proved to be successful in controlling the epilepsy. We report a 9-year-old boy with retardation and ataxia, but without epilepsy, caused by GLUT-1 deficiency, proven biochemically and by DNA analysis. Treatment with a medium-chain triglyceride ketogenic diet had a beneficial effect.
KeywordsEpileptic Seizure Ketogenic Diet Dystonic Posturing Ciency Syndrome Autosomal Dominant Transmission
Unable to display preview. Download preview PDF.
- De Vivo DC, Garcia-Alvarez M, Ronen G, Trifiletti R (1995) Glucose transport protein deficiency: an emerging syndrome with therapeutic implications. Int Pediatr 10: 51–56.Google Scholar
- Ho YY, Wang D, Hinton V, et al (2001) Glut-i deficiency syndrome (Glut-iDS): autosomal dominant transmission of the R126C missense mutation. Ann Neurol 50: S125.Google Scholar
- Shows TB, Eddy RL, Byers MG, et al (1987) Polymorphic human glucose transporter gene (GLUT) is on chromosome lp31.3-p35. Diabetes 37: 546–549.Google Scholar