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BMC Gastroenterology

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Open Access 01-12-2018 | Case report

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

Authors: Jia-Qi Li, Xin-Bao Xie, Jia-Yan Feng, Lian Chen, Kuerbanjiang Abuduxikuer, Yi Lu, Yu-Chuan Li, Jian-She Wang

Published in: BMC Gastroenterology | Issue 1/2018

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.

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Title: A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report
Authors: Jia-Qi Li
Xin-Bao Xie
Jia-Yan Feng
Lian Chen
Kuerbanjiang Abuduxikuer
Yi Lu
Yu-Chuan Li
Jian-She Wang
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: BMC Gastroenterology / Issue 1/2018
Electronic ISSN: 1471-230X
DOI: https://doi.org/10.1186/s12876-018-0827-6

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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

Abstract

Background

Case presentation

Conclusions

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Abstract

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