Article
Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency.
BMC pediatrics - 22 Aug 2024
Dong Hui, Sang Tian, Ma Xue, Song Jinqing, Chen Zhehui, Zhang Huiting, Jin Ying, Li Mengqiu, Dong Dingding, Sun Liying, Zhu Zhijun, Zhang Yao, Yang Yanling
Abstract excerpt
BACKGROUND: Carbamoyl phosphate synthetase 1 (CPS1) deficiency (OMIM 237300), an autosomal recessive rare and severe urea cycle disorder, is associated with hyperammonemia and high mortality. METHODS: Herein we present 12 genetic variants identified in seven clinically well-characterized Chinese patients with CPS1 deficiency who were admitted to the Children's Medical Center of Peking University First Hospital...
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