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D-2-hydroxyglutaric aciduria 1

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Mondo Description Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.
Uniprot Description A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine.
Mondo Term and Equivalent IDs
MONDO:0024554:  D-2-hydroxyglutaric aciduria 1
DOID:0111351: 
UMLS:C3152055: