标题：新生儿精氨酰琥珀酸尿症一例并文献复习

      作者：胡启发 1，高镝 2，苏喆 1，3    胡启发 1，高镝 2，苏喆 1，31.遵义医科大学珠海校区，广东 珠海 519041；2.深圳市儿童医院新生儿科，广东 深圳 518026；3.深圳市儿童医院内分泌科，广东 深圳 518038

      卷次： 2023年34卷17期

      【摘要】 精氨酰琥珀酸尿症是一种罕见的常染色体隐性遗传病，属于尿素循环障碍性疾病的一种类型。临床表现从无症状到出现高氨血症的相关症状，包括肝功能障碍、神经认知缺陷、行为异常和学习障碍等。本文报道了1例ASL基因突变导致新生儿期发病的精氨酰琥珀酸尿症，回顾分析ASL基因突变导致精氨酰琥珀酸尿症的临床特点及诊治过程，并结合相关文献进一步分析，以提高临床医生对这一罕见疾病的早期识别。
      【关键词】 新生儿；精氨酰琥珀酸裂解酶；精氨酰琥珀酸尿症；尿素循环障碍
      【中图分类号】 R722 【文献标识码】 D 【文章编号】 1003—6350（2023）17—2567—04

A case of neonatal arginosuccinic aciduria and literature review.
HU Qi-fa 1, GAO Di 2, SU Zhe 1,3. 1. Zunyi MedicalUniversity（Zhuhai Campus), Zhuhai 519041, Guangdong, CHINA; 2. Department of Neonatology, Shenzhen Children'sHospital, Shenzhen 518026, Guangdong, CHINA; 3. Department of Endocrinology, Shenzhen Children's Hospital, Shenzhen518038, Guangdong, CHINA【Abstract】 Argininosuccinic aciduria is a rare autosomal recessive disorder, a type of urea cycle disorder. Clin-ical manifestations range from asymptomatic to the symptoms associated with hyperammonemia, including liver dys-function, neurocognitive deficits, behavioral abnormalities, and learning disabilities. This paper reported a case of ar-ginosuccinuria in the neonatal period, reviewed the clinical characteristics and diagnosis and treatment of arginuria,and further analysis combined with relevant literature to improve the early identification of this rare disease by clini-cians.
      【Key words】 Newborn; Arginylsuccinate lyase; Arginylsuccinuria; Urea cycle disorder