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

ABSTRACT:

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 spectrometric analysis and urea organic acidemia screening were performed on five Chinese cases, including three OTCD and two ASLD patients. Next-generation sequencing was then used to make a definite diagnosis, and the related variants were validated by Sanger sequencing.

Results

The five patients exhibited severe clinical symptoms, with abnormal biochemical analysis a

SUBMITTER: Zheng Z 

PROVIDER: S-EPMC7336749 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature