Urocanic aciduria
MeSH: C536479ORPHA: 210128
Overview
medical condition
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 Urocanic aciduria, sourced from HPO and Orphanet clinical annotations.
AtaxiaDysarthriaGait ataxiaTruncal ataxiaBroad-based gaitAction tremorRecurrent infectionsHyperactive deep tendon reflexesGaze-evoked horizontal nystagmusAbnormal circulating histidine concentrationUrocanic aciduria
Classification & Codes
MeSH Code
C536479Orphanet Code
ORPHA:210128Urocanic aciduria
| MeSH | C536479 |
| Orphanet | ORPHA:210128 |
| Treatments | 0 drug(s) |
| Symptoms on record | 11 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO