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

BMC Gastroenterol. 2018 Jun 25;18(1):96. doi: 10.1186/s12876-018-0827-6.

Abstract

Background: Transient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene.

Case presentation: We 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.

Conclusions: This is the first reported case of HTGTI in Chinese, expanding the worldwide distribution of HTGTI and the mutation spectrum of GPD1.

Keywords: GPD1; HTGTI; Hypertriglyceridemia; hepatic steatosis; hepatomegaly.

Publication types

  • Case Reports

MeSH terms

  • Alanine Transaminase / blood
  • Asian People / genetics*
  • Aspartate Aminotransferases / blood
  • Codon, Nonsense*
  • Fatty Liver / genetics
  • Female
  • Glycerolphosphate Dehydrogenase / genetics*
  • Hepatomegaly / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Hypertriglyceridemia / genetics*
  • Infant
  • Parents

Substances

  • Codon, Nonsense
  • GPD1L protein, human
  • Glycerolphosphate Dehydrogenase
  • Aspartate Aminotransferases
  • Alanine Transaminase