Clinical and genetic analysis of five Chinese patients with urea cycle disorders.,Molecular Genetics & Genomic Medicine

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Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-05-15 , DOI: 10.1002/mgg3.1301
Zhenzhu Zheng ₁ , Yiming Lin ₁ , Weihua Lin ₁ , Lin Zhu ₂ , Mengyi Jiang ₂ , Wenjun Wang ₂ , Qingliu Fu ₁

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The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL). Ornithine transcarbamylase deficiency (OTCD) results from mutations in the OTC . Meanwhile, argininosuccinate lyase deficiency (ASLD) is caused by mutations in the ASL .

更新日期：2020-07-06

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