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 )

Relationships
is a type of: autosomal recessive disease histidine metabolism disease