[L-2 hydroxyglutaric aciduria: presentation of a family diagnosed in adulthood].

Abstract

Introduction. Organic acidurias are a group of hereditary metabolic disorders characterized by an increase in excretion of organic acids in urine. L-2 hydroxyglutaric aciduria is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive ataxia… (More)

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