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
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
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