女性新生儿期起病型鸟氨酸氨甲酰基转移酶缺乏症1例并文献复习

Ornithine carbamoyltransferase deficiency caused by one female newborn:A case report and literature review

回顾性分析1例女性新生儿期起病型鸟氨酸氨甲酰基转移酶缺乏症患儿的临床资料及基因检测结果。患儿女性,3天,主要表现为反应差、抽搐、昏迷及高氨血症。血瓜氨酸水平(4.12μmol/L)降低及尿乳清酸水平显著升高(166.3μmol/L),二代测序及QPCR验证发现OTC基因外显子1-10的杂合缺失,母亲携带外显子2和外显子4的杂合缺失,父亲、姐姐及双胞胎弟弟未携带该基因外显子缺失。系国内首次报道女性新生儿期起病外显子1-10全部缺失的鸟氨酸氨甲酰基转移酶缺乏症。

Clinical data and gene sequencing results of a female newborn with ornithine carbamyltransferase deficiency were analyzed retrospectively.Major symptoms of female newborn(3 days old)were found to have poor response,convulsion,coma and hyperammonemia.The level of citrulline in the blood(4.12μmol/L)decreased,the level of urine orotic acid increased significantly(166.3μmol/L).Next generation sequencing(NGS)and qPCR verification showed that exon1-10 of OTC gene was deleted in terms of heterozygosity,the mother carried heterozygous deletion of Exon 2 and Exon 4.The father,sister and twin brother of the female newborn did not carry exon deletion.She acted as the first case with ornithine transcarbamylase deficiency with the deletion of all exons from Exon 1 to Exon 10 for female neonatal onset in China.