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Article

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.

Proceedings of the National Academy of Sciences of the United States of America - 30 Nov 2004

Rzem Rim, Veiga-da-Cunha Maria, Noël Gaëtane, Goffette Sophie, Nassogne Marie-Cécile, Tabarki Brahim, Schöller Christina, Marquardt Thorsten, Vikkula Miikka, Van Schaftingen Emile

Abstract excerpt

The purpose of this study was to identify the biochemical and genetic defect in L-2-hydroxyglutaric aciduria, a neurometabolic disorder characterized by the presence of elevated concentrations of L-2-hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid. Evidence is provided for the existence in rat tissues of a FAD-dependent enzyme catalyzing specifically the oxidation of L-2-hydroxyglutarate to...

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Identifiers

PMID: 15548604
DOI: 10.1073/pnas.0404840101
PMCID: PMC534725

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Source receipt: pubmed, retrieved 7 Sept 2026.

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