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Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

✍ Scribed by Eduard A. Struys; Gajja S. Salomons; Younes Achouri; Emile Van Schaftingen; Salvatore Grosso; William J. Craigen; Nanda M. Verhoeven; Cornelis Jakobs

Book ID: 117854581
Publisher: American Society of Human Genetics
Year: 2005
Tongue: English
Weight: 153 KB
Volume: 76
Category: Article
ISSN: 0002-9297
DOI: 10.1086/427890

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We performed molecular, enzyme, and metabolic studies in 50 patients with D-2-hydroxyglutaric aciduria (D-2-HGA) who accumulated D-2-hydroxyglutarate (D-2-HG) in physiological fluids. Presumed pathogenic mutations were detected in 24 of 50 patients in the D-2-hydroxyglutarate dehydrogenase (D2HGDH)