Urocanase Deficiency (UROCD)

Urocanase Deficiency(来自ICD-11)
别称:
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
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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
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相关ID:
MESH:C536479
ICD11:61773927

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参考文献
MALACARDS
AR
Newborn
<1/1000000
11
53
3

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