Urocanic aciduria
ORPHA:210128· ICD-10 E70.8
Definition
A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal