Abstract
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.
MeSH terms
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Ataxia / genetics
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Blood Glucose / metabolism
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Carbohydrate Metabolism, Inborn Errors / diet therapy
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Carbohydrate Metabolism, Inborn Errors / genetics*
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Carbohydrate Metabolism, Inborn Errors / psychology
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Child
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DNA / genetics
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DNA Mutational Analysis
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Epilepsy / genetics*
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Erythrocytes / metabolism
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Glucose / metabolism
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Glucose Transporter Type 1
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Humans
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Intellectual Disability / genetics
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Intelligence Tests
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Lactic Acid / blood
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Lactic Acid / cerebrospinal fluid
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Male
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Monosaccharide Transport Proteins / deficiency*
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Monosaccharide Transport Proteins / genetics*
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Triglycerides / therapeutic use
Substances
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Blood Glucose
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Glucose Transporter Type 1
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Monosaccharide Transport Proteins
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SLC2A1 protein, human
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Triglycerides
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Lactic Acid
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DNA
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Glucose