2-hydroxyglutaric aciduria
MONDO:0016001Mondo
Findings
No curated finding names 2-hydroxyglutaric aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016001), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: 2-hydroxyglutaric aciduria
- Also called
- 2-hydroxyglutaric acidemia