5C50.21
Urocanic aciduria
Acidúria urocânica
CategoryDefinition
This is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme urocanase. It is a secondary disorder of histidine metabolism.
Index Terms
Urocanic aciduriaEncephalopathy due to urocanase deficiencyUrocanate hydratase deficiencyUrocanase deficiency