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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This 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.