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D-2-Hydroxyglutaric aciduria: Further clinical delineation

✍ Scribed by M. S. van der Knaap; C. Jakobs; G. F. Hoffmann; M. Duran; A. C. Muntau; S. Schweitzer; R. I. Kelley; F. Parrot-Roulaud; J. Amiel; P. De Lonlay; D. Rabier; O. Eeg-Olofsson

Book ID: 110225760
Publisher: Springer
Year: 1999
Tongue: English
Weight: 124 KB
Volume: 22
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1005548005393

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## 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