Urocanase deficiency

Definition:

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.

References:

[1]. C Espinós, et al. Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. J Med Genet. 2009 Jun;46(6):407-11. [Content Brief]

[2]. T Yoshida, et al. Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded. Tohoku J Exp Med. 1971 Aug;104(4):305-12. [Content Brief]

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