L-2-hydroxyglutaric aciduria

Term ID

DOID:0050574

Synonyms

• L-2-HYDROXYGLUTARIC ACIDEMIA

Definition

An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria

References

• GARD:10472
• OMIM:236792
• ORDO:79314

Ontology

Human Disease   ( DOID:0050574 )