Article
Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
Molecular genetics and metabolism - 1 Jan 2000
Misra Vinod K, Struys Eduard A, O'brien William, Salomons Gajja S, Glover Thomas, Jakobs Cornelis, Innis Jeffrey W
Abstract excerpt
D-2-hydroxyglutaric aciduria (D-2-HGA) is a very rare autosomal recessive metabolic disorder that has recently been associated with mutations in the D-2-hydroxyglutarate dehydrogenase gene. The biochemical phenotype of D-2-HGA is defined by the accumulation of abnormal amounts of D-2-hydroxyglutarate in cerebrospinal fluid, blood, and urine while the clinical phenotype can vary from a severe epileptic...
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