Article
Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
Molecular genetics & genomic medicine - 1 Jul 2020
Zheng Zhenzhu, Lin Yiming, Lin Weihua, Zhu Lin, Jiang Mengyi, Wang Wenjun, Fu Qingliu
Abstract excerpt
BACKGROUND: 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. METHODS: Blood tandem mass...
Topics
- Argininosuccinate Lyase
- Argininosuccinic Aciduria
- Female
- Humans
- Infant
- Male
- Molecular Dynamics Simulation
- Mutation
- Ornithine Carbamoyltransferase
- Ornithine Carbamoyltransferase Deficiency Disease
- Pedigree
- Protein Domains