PDF(Pubmed)
Abstract：
The aim of the present report was to describe the clinical presentation, diagnosis, and treatment of a case of carbamoyl phosphate synthetase 1 (CPS1) deficiency in a neonate, specifically, a 3 day-old female who visited Hunan Provincial People\'s Hospital due to anorexia and lethargy for 1 day. Physical and laboratory examination, and MRI were undertaken. Whole exome sequencing (WES) was applied for molecular etiology identification. Sanger sequencing was utilized to validate the variants detected by WES. Structural modeling was conducted for pathogenic analysis. Clinical examination revealed increased intracranial pressure, hyperammonemia, reduced citrulline, and increased glutamic acid levels. WES identified compound heterozygosity of c.713G>C, p.Arg238Pro and c.2339G>A, p.Arg780His in CPS1 (NCBI reference sequence, NM_001875.4) as candidate pathogenic variants. Sanger sequencing validated these variants. Structural modeling further confirmed the pathogenesis of these mutations. In conclusion, CPS1 deficiency in neonates is a serious condition that may be misdiagnosed due to severe infection. WES can be a helpful tool in facilitating the diagnosis of this disease.
摘要：
本报告的目的是描述临床表现，诊断,并治疗新生儿氨基甲酰磷酸合成酶1（CPS1）缺乏症，具体来说,一名3天大的女性，因厌食症和嗜睡1天到湖南省人民医院就诊。物理和实验室检查，和MRI进行。全外显子组测序(WES)用于分子病因学鉴定。利用Sanger测序来验证通过WES检测的变体。进行结构建模以进行病原分析。临床检查显示颅内压升高,高氨血症,减少瓜氨酸，并增加谷氨酸水平。WES鉴定出c.713G>C的复合杂合度，p.Arg238Pro和c.2339G>A,CPS1中的p.Arg780His（NCBI参考序列，NM_001875.4)作为候选致病变体。Sanger测序验证了这些变体。结构建模进一步证实了这些突变的发病机理。总之,新生儿CPS1缺乏症是一种严重的疾病，可能因严重感染而误诊。WES可能是促进该疾病诊断的有用工具。
