Urocanic aciduria

Orpha code: 210128OMIM code: 276880

Definition

A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia.

Disease data
Classification

Disease

Synonyms
Encephalopathy due to urocanase deficiency
Encefalopatia z powodu niedoboru urokanazy
ORPHA code
210128
OMIM code
276880
ICD10 code
E70.8
ICD11 code
5C50.21

No additional description.

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