Urocanic aciduria
From BugSigDB
Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.
- Aliases
- Encephalopathy due to urocanase deficiency
- encephalopathy due to urocanase deficiency
- urocanase deficiency
- urocanic aciduria
- urocanic aciduria
- urocanic aciduria (disease)
- UROCD
