氨甲酰磷酸合成酶1缺乏症1例临床及基因分析

Clinical and genetic analysis of carbamoyl phosphate synthetase 1 deficiency: a case report

目的分析CPS1基因突变致氨甲酰磷酸合成酶1缺乏症的临床特征、诊断及治疗.方法回顾分析1例CPS1基因突变致氨甲酰磷酸合成酶1缺乏症患儿的临床资料及基因检测结果,并结合文献进行分析.结果患儿男性,36周早产,出生体质量2500 g,出生后反应差、拒乳,四肢肌张力低下;血氨显著升高,血串联质谱示瓜氨酸水平减低,存在尿素循环障碍.全外显子基因测序显示CPS1基因复杂杂合突变,分别来自母亲的C.2876A>G(p.Y959C)及父亲的C.2429A>C(p.Q810P)的错义突变.父母非近亲结婚,表型无异常.结论早期行基因检测可协助氨甲酰磷酸合成酶1缺乏症诊断.

Objective To explore the clinical characteristics,diagnosis and treatment of carbamoyl phosphate synthetase 1 deficiency(CPS1D)caused by CPS1 gene mutation.Methods The clinical data and gene detection results of CPS1D caused by CPS1 gene mutation in a child were analyzed retrospectively.Related literature was reviewed.Results The patient was male,born prematurely at 36 weeks and weighed 2500 g.After birth,the patient had poor reaction,milk rejection and low muscle tone in the limbs.The blood ammonia was significantly elevated,and tandem mass spectrometry showed that blood citrulline levels were reduced and there was a urea cycle disorder.The whole exon sequencing showed a complex heterozygous mutation of CPS1 gene,which came from the missense mutations of mother[c.2876a>G(p.y959c)]and father[c.2429a>C(p.q810p)].Parents were not close relatives,and the phenotype is normal.Conclusion Early detection of genes can help diagnose CPS1D.