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

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...

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Príomhchruthaitheoirí: Shangyu Wang, Jinglin Chen, Xiaoqi Zhu, Tingting Huang, Haifeng Xu, Guohuan Ying, Hao Qian, Wenxin Lin, Yiehen Tung, Kaleem Ullah Khan, Hu Guo, Guo Zheng, Haiying Lu, Gang Zhang
Formáid: Artigo
Teanga:Inglês
Foilsithe / Cruthaithe: BMC 2023-06-01
Sraith:BMC Medical Genomics
Ábhair:
Hyperammonemia
CPS1 gene variant
Emerging mutations
Urea cycle disorder/carbamoyl phosphate synthase I deficiency
Rochtain ar líne:https://doi.org/10.1186/s12920-023-01569-w
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