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Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

✍ Scribed by Eduard A. Struys; Stanley H. Korman; Gajja S. Salomons; Patricia S. Darmin; Younes Achouri; Emile Van Schaftingen; Nanda M. Verhoeven; Cornelis Jakobs

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 81 KB
Volume: 58
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.20559

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✦ Synopsis

Abstract

D‐2‐hydroxyglutaric aciduria is a neurometabolic disorder with mild and severe phenotypes. Recently, we reported pathogenic mutations in the D‐2‐hydroxyglutarate dehydrogenase gene as the cause of the severe phenotype of D‐2‐hydroxyglutaric aciduria in two patients. Here, we report two novel pathogenic mutations in this gene in one patient with a mild presentation and two asymptomatic siblings with D‐2‐hydroxyglutaric aciduria from two unrelated consanguineous Palestinian families: a splice error (IVS4‐2A→G) and a missense mutation (c.1315A→G;p.Asn439Asp). Overexpression of this mutant protein showed marked reduction of the enzyme activity. Ann Neurol 2005

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