英语词汇“urocanase deficiency”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	urocanase deficiency
释义	urocanase deficiency urocanase deficiency An inborn error of histidine metabolism (OMIM:276880) resulting in urocanic aciduria and neurologic disease, including mental retardation, ataxia, episodic aggressive behaviour or exaggerated affection-seeking. Molecular pathology Caused by defects of UROC1, which encodes urocanate hydratase, an enzyme that metabolises urocanic acid to formiminoglutamic acid.
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