D-2-hydroxyglutaric aciduria: Case report and biochemical studies
β Scribed by R. A. Chalmers; A. M. Lawson; R. W. E. Watts; A. S. Tavill; J. P. Kamerling; E. Hey; D. Ogilvie
- Publisher
- Springer
- Year
- 1980
- Tongue
- English
- Weight
- 393 KB
- Volume
- 3
- Category
- Article
- ISSN
- 0141-8955
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## Abstract Dβ2βhydroxyglutaric aciduria is a neurometabolic disorder with mild and severe phenotypes. Recently, we reported pathogenic mutations in the __D__β__2__β__hydroxyglutarate dehydrogenase__ gene as the cause of the severe phenotype of Dβ2βhydroxyglutaric aciduria in two patients. Here, we
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)
D-2-hydroxyglutaric aciduria (D2HGA) is a rare autosomal recessive disorder with variable clinical expression. The biochemical defect is unknown at present. Previously reported cases have either followed a severe clinical course characterized by neonatal epileptic encephalopathy, cortical blindness,