Urocanase deficiency is an autosomal recessive disorder of histidine metabolism caused by mutations in the UROC1 gene. It is characterized by mental retardation, urocanic aciduria, and a defective activity of urocanase of the liver. Patients sometimes display ataxia.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H01233 Urocanase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06037 Histidine metabolism
H01233 Urocanase deficiency
