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Rev. méd. Chile ; 135(5): 631-635, mayo 2007. ilus
Article in Spanish | LILACS | ID: lil-456680


The glucose transporter type 1 deficiency syndrome (GLUT-1 SD) (OMIM 606777) is an inborn error of metabolism of brain glucose transport. The characteristic clinical manifestations are seizures, hypotonia, developmental delay, microcephaly and hypoglycorrhachia. We report a girl with normal weight and height at birth. At 6 weeks of age she started with convulsions reaching up to 20 myoclonic seizures a day. She was treated with valproate, phenobarbital and carbamazepine without response. Blood analysis including aminoacids and acylcarnitines were all normal. The brain MRI showed frontal atrophy with an increased subarachnoidal space and Electroencephalography was abnormal. Blood glucose was 84 mg/dl and spinal fluid glucose 26 mg/dl with a ratio of 0.31 (Normal Ratio >0.65+00.1). These results suggested the diagnosis of GLUT-1 SD, and was confirmed with erythrocyte glucose uptake of 44 percent (Normal range 80-100 percent). A molecular study found the mutation 969del, C971T in exon 6 of the gene Glut-1. Treatment with a ketogenic diet was started immediately and after 7 days with this diet seizures ceased. Anticonvulsants were progressively suspended. At present, the patient is 6 years old, she continues on a ketogenic diet and supplements with L-carnitine, lipoic acid, vitamins and minerals. Growth and development are normal with an intelligence quotient of 103. It is concluded that it is necessary to include GLUT-1 SD in the differential diagnosis of children with early seizures that are non responsive to pharmacological treatment.

Female , Humans , Infant, Newborn , Carbohydrate Metabolism, Inborn Errors/diet therapy , Dietary Fats/administration & dosage , Glucose Transporter Type 1/deficiency , Ketones/metabolism , Anticonvulsants/therapeutic use , Blood Glucose/metabolism , Carbohydrate Metabolism, Inborn Errors/blood , Carbohydrate Metabolism, Inborn Errors/genetics , Carnitine/therapeutic use , Dietary Fats/metabolism , Erythrocytes/metabolism , Syndrome , Seizures/diet therapy , Seizures/drug therapy