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D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis

✍ Scribed by I. S. Talkhani; J. Saklatvala; J. Dwyer

Publisher
Springer
Year
2000
Tongue
English
Weight
142 KB
Volume
29
Category
Article
ISSN
0364-2348

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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

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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)