L-2-hydroxyglutaric aciduria
ORPHA: 79314
Overview
2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with L-2-hydroxyglutaric aciduria, sourced from HPO and Orphanet clinical annotations.
SeizureInfectious encephalitisIntellectual disabilitySevere intellectual disabilityMacrocephalyAtypical behaviorHypotoniaSpastic tetraparesisAbnormality of extrapyramidal motor functionNeoplasm of the nervous systemAplasia/Hypoplasia of the cerebellumAphasia
Classification & Codes
Orphanet Code
ORPHA:79314L-2-hydroxyglutaric aciduria
| Orphanet | ORPHA:79314 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO