Clinical and genetic analysis of five Chinese patients with urea cycle disorders

摘要

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 . Meanwhile, argininosuccinate lyase deficiency (ASLD) is caused by mutations in the .