Rare diseases · Sign or symptom
2-hydroxyglutarate aciduria
HP:0032278
What it means
The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.
2-hydroxyglutaric aciduria can cause causes progressive cerebral damage.
Part of the broader category
2-hydroxyglutarate aciduria
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.