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.
Overweg-Plandsoen
W C G
WC
Department of Paediatric Neurology, Leiden University Medical Centre, Leiden, The Netherlands. w.c.g.plandsoen.neurology@lumc.nl
Groener
J E M
JE
Wang
D
D
Onkenhout
W
W
Brouwer
O F
OF
Bakker
H D
HD
De Vivo
D C
DC
D001259:Ataxia / Q000235:genetics; D001786:Blood Glucose / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics* / Q000523:psychology; D002648:Child; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000235:genetics*; D004912:Erythrocytes / Q000378:metabolism; D005947:Glucose / Q000378:metabolism; D051272:Glucose Transporter Type 1; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007361:Intelligence Tests; D019344:Lactic Acid / Q000097:blood / Q000134:cerebrospinal fluid; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency* / Q000235:genetics*; D014280:Triglycerides / Q000627:therapeutic use
D001786:Blood Glucose; D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human; D014280:Triglycerides; D019344:Lactic Acid; D004247:DNA; D005947:Glucose