d-2-Hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction
β Scribed by Craigen, William J.; Jakobs, Cornelis; Sekul, Elizabeth A.; Levy, Moise L.; Gibson, K.Michael; Butler, Ian J.; Herman, Gail E.
- Book ID
- 122618647
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 586 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0887-8994
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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)