Term Name: | urocanase deficiency |
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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 ) |