Oxoglutaricaciduria
MeSH: C536582ORPHA: 31
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 Oxoglutaricaciduria, sourced from HPO and Orphanet clinical annotations.
HydrocephalusAbnormality of Krebs cycle metabolismAtaxiaGlobal developmental delayHypertoniaSkeletal muscle atrophyShort statureAbnormal salivary gland morphologyAbnormal urine alpha-ketoglutarate concentrationAbnormality of movement
Classification & Codes
MeSH Code
C536582Orphanet Code
ORPHA:31Oxoglutaricaciduria
| MeSH | C536582 |
| Orphanet | ORPHA:31 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO