Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > d-2-hydroxyglutaric aciduria
d-2-hydroxyglutaric aciduria
MIM.600721
Tuesday 18 January 2005
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