urocanase deficiency (DOID:0112180)
Alliance: disease page
Synonyms: encephalopathy due to urocanase deficiency; high urine urocanic acid levels; urocanate hydratase deficiency; urocanic aciduria; UROCD
Alt IDs: OMIM:276880, MESH:C536479, ORDO:210128, UMLS_CUI:C0268514
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.