Human pathology

Home page > D. Systemic pathology > Genetic and developmental anomalies > Metabolic diseases > d-2-hydroxyglutaric aciduria

d-2-hydroxyglutaric aciduria

MIM.600721

d-2-hydroxyglutaric aciduria is a neurometabolic disorder with both a mild and a severe phenotype and with unknown etiology.

Etiology

- germline mutations in the d-2-hydroxyglutarate dehydrogenase gene