Hyperinsulinism-hyperammonemia syndrome: a case report and literature review

  • 魏巍,陈瑶,李娟,等
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  • 1.Shanghai Chindren’s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China; 2.The First Affiliated Hospital of Wannan Medical College, Wuhu 241000, Anhui, China

Online published: 2019-05-15

Abstract

 Objective To investigate the pathogenesis, clinical manifestations and genetic characteristics of hyperinsulinism-hyperammonemia (HI/HA) syndrome caused by GLUD1 gene mutation. Method Clinical data of a case with HI/HA syndrome was retrospectively analyzed, and relevant literature was reviewed. Results The girl began to have repeated hypoglycemia since she was 1 year and nine months old. During the course of more than two years, convulsions had happened for 3 times which was recovered by elevated blood sugar and anticonvulsant therapy each time. Laboratory data showed that the level of blood insulin and ammonia was elevated, which was defined as HI/HA syndrome. High-throughput sequencing analysis revealed a de novo heterogeneous missense mutation (c.965G > A, p.Arg322His) in GLUD1 gene. Conclusion Gene detection could confirm the diagnosis of HI/HA syndrome.

Cite this article

魏巍,陈瑶,李娟,等 . Hyperinsulinism-hyperammonemia syndrome: a case report and literature review[J]. Journal of Clinical Pediatrics, 2019 , 37(5) : 360 . DOI: 10.3969/j.issn.1000-3606.2019.05.009

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