" /> Urocanic aciduria - CISMeF





ICD-11 code : 5C50.21;

Preferred Label : Urocanic aciduria;

ICD-11 definition : This is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme urocanase. It is a secondary disorder of histidine metabolism.;

ICD-11 synonym : Encephalopathy due to urocanase deficiency; Urocanate hydratase deficiency; Urocanase deficiency;

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

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26/07/2025


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