5C50.21 category

Urocanic aciduria

Name: 5C50.21 — Urocanic aciduria
License: https://creativecommons.org/licenses/by-nd/3.0/igo/

Definition

This is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme urocanase. It is a secondary disorder of histidine metabolism.

Encephalopathy due to urocanase deficiencyUrocanase deficiencyUrocanate hydratase deficiencyUrocanic aciduria