| Term Name: | urocanase deficiency |
|---|---|
| Synonyms: | encephalopathy due to urocanase deficiency, high urine urocanic acid levels, urocanate hydratase deficiency, urocanic aciduria, UROCD |
| Definition: | A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. |
| Ontology: | Human Disease [DOID:0112180] ( DOID:0112180 ) |