Urocanase Deficiency (UROCD)

Alias:

Encephalopathy Due to Urocanase Deficiency

Urocanic Aciduria

Urocanate Hydratase Deficiency

Urocd

High Urine Urocanic Acid Levels

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Urocanase Deficiency, also known as encephalopathy due to urocanase deficiency, is related to histidinemia and histidine metabolism disease, and has symptoms including ataxia and tremor. An important gene associated with Urocanase Deficiency is UROC1 (Urocanate Hydratase 1), and among its related pathways/superpathways is histidine degradation. Affiliated tissues include liver, and related phenotypes are ataxia and dysarthria

Related ID：

MALACARDS：URC006

OMIM：276880

MESH：C536479

ICD11：61773927