Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review

• Main Authors: Shangyu Wang (Author), Jinglin Chen (Author), Xiaoqi Zhu (Author), Tingting Huang (Author), Haifeng Xu (Author), Guohuan Ying (Author), Hao Qian (Author), Wenxin Lin (Author), Yiehen Tung (Author), Kaleem Ullah Khan (Author), Hu Guo (Author), Guo Zheng (Author), Haiying Lu (Author), Gang Zhang (Author)
• Format: Book
• Published: BMC, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 C...