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Mutations in phenotypically mild D‐2‐hydroxyglutaric aciduria by Eduard A. Struys; Stanley H. Korman; Gajja S. Salomons; Patricia S. Darmin; Younes Achouri; Emile Van Schaftingen; Nanda M. Verhoeven; Cornelis Jakobs is a Medicine article available to read on EtoBox.
What is Mutations in phenotypically mild D‐2‐hydroxyglutaric aciduria about?
## 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
Who reads Mutations in phenotypically mild D‐2‐hydroxyglutaric aciduria?
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- Author
- 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; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0364-5134)
- Published
- 2005
- Language
- EN
- Field
- Medicine (Health Sciences)