Article
Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review.
BMC medical genomics - 26 Jun 2023
Wang Shangyu, Chen Jinglin, Zhu Xiaoqi, Huang Tingting, Xu Haifeng, Ying Guohuan, Qian Hao, Lin Wenxin, Tung Yiehen, Khan Kaleem Ullah, Guo Hu, Zheng Guo, Lu Haiying, Zhang Gang
Abstract excerpt
BACKGROUND: Carbamoyl phosphate synthetase I defect (CPS1D) is a rare disease with clinical case reports mainly in early neonates or adults, with few reports of first onset in late neonatal to childhood. We studied the clinical and genotypic characteristics of children with childhood onset CPS1D caused by two loci mutations (one of these is a rarely reported non-frame shift mutation) in the CPS1. CASE...
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