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2-hydroxyglutaric aciduria

Disease Summary
Associated Targets (4)
Tbio

3

Tclin

1


GARD Rare
Mondo Description 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
Disease Ontology Description An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
Mondo Term and Equivalent IDs
MONDO:0016001:  2-hydroxyglutaric aciduria
GARD:0010761: 
MESH:C535306: 
NCIT:C128187: 
Orphanet:19: 
SCTID:698870008: 
UMLS:C2746066: