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A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report

Authors
  • Li, Jia-Qi1
  • Xie, Xin-Bao2
  • Feng, Jia-Yan3
  • Chen, Lian3
  • Abuduxikuer, Kuerbanjiang2
  • Lu, Yi2
  • Li, Yu-Chuan2
  • Wang, Jian-She2
  • 1 Jinshan Hospital of Fudan University, Department of Pediatrics, 1508 Longhang Road, Jinshan District, Shanghai, 201508, China , Shanghai (China)
  • 2 Children’s Hospital of Fudan University, The Center for Pediatric Liver Disease, 399 Wanyuan Road, Minhang District, Shanghai, 201102, China , Shanghai (China)
  • 3 Children’s Hospital of Fudan University, Department of Pathology, 399 Wanyuan Road, Minhang District, Shanghai, 201102, China , Shanghai (China)
Type
Published Article
Journal
BMC Gastroenterology
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Jun 25, 2018
Volume
18
Issue
1
Identifiers
DOI: 10.1186/s12876-018-0827-6
Source
Springer Nature
Keywords
License
Green

Abstract

BackgroundTransient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene.Case presentationWe report a case of HTGTI in a Chinese female infant. She presented with hepatomegaly, hypertriglyceridemia, moderately elevated transaminases, and hepatic steatosis at 3.5 months of age. A novel mutation c.523C>T, p. (Q175*) was identified in GPD1. The patient was a homozygote and her parents were heterozygous for the mutation. Ultrastructural study showed intrahepatocytic lipid droplets.ConclusionsThis is the first reported case of HTGTI in Chinese, expanding the worldwide distribution of HTGTI and the mutation spectrum of GPD1.

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