Clinical study of recurrent hyperammonemia caused by argininosuccinic aciduria

  • 马 昕,朱 丹,宫幼喆,等
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  • Department of Gastroenterology, Hospital of Capital Institute of Pediatrics, Beijing 100020, China

Online published: 2019-07-18

Abstract

 Objective To explore the diagnosis and treatment of recurrent hyperammonemia caused by argininosuccinic aciduria. Method The diagnosis, treatment and follow-up of argininosuccinic aciduria in a child were retrospectively analyzed, and the related literature was reviewed. Results A 13-month-old boy was admitted to hospital for vomiting, sleepiness and poor reaction. The results showed elevated blood ammonia (138.02 μmol/L), abnormal liver function, hypokalemia, elevated blood citrulline (65.64 Umol/L), and abnormal electroencephalogram. The second generation gene sequencing was performed on hyperammonia-related genes, and the compound heterozygous mutation of argininosuccinate lyase (ASL) gene was found. After the treatment with protein restriction diet and arginine supplementation, the children's hyperammonia still recurred and the liver was progressively enlarged. One year after the diagnosis, liver transplantation was performed. At present, 1 year after transplantation, the liver function, blood ammonia, growth and development of the child were normal. Conclusion The clinical manifestations of argininosuccinic aciduria are complex, and hyperammonia is an important manifestation. Gene examination is helpful for diagnosis and liver transplantation is effective.

Cite this article

马 昕,朱 丹,宫幼喆,等 . Clinical study of recurrent hyperammonemia caused by argininosuccinic aciduria[J]. Journal of Clinical Pediatrics, 2019 , 37(7) : 530 . DOI: 10.3969/j.issn.1000-3606.2019.07.012

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