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urocanase deficiency
Summary
- Synonym
-
- UROCD
- encephalopathy due to urocanase deficiency
- high urine urocanic acid levels
- urocanate hydratase deficiency
- urocanic aciduria
- 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.
- Super Class
- autosomal recessive disease histidine metabolism disease
External Links
- Disease Ontology
- DOID:0112180
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
