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Article

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

American journal of human genetics - 1 Feb 2005

Struys Eduard A, Salomons Gajja S, Achouri Younes, Van Schaftingen Emile, Grosso Salvatore, Craigen William J, Verhoeven Nanda M, Jakobs Cornelis

Abstract excerpt

d-2-hydroxyglutaric aciduria is a neurometabolic disorder with both a mild and a severe phenotype and with unknown etiology. Recently, a novel enzyme, d-2-hydroxyglutarate dehydrogenase, which converts d-2-hydroxyglutarate into 2-ketoglutarate, and its gene were identified. In the genes of two unrelated patients affected with d-2-hydroxyglutaric aciduria, we identified disease-causing mutations. One patient was...

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PMID: 15609246
DOI: 10.1086/427890
PMCID: PMC1196381

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