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

Transient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene. We report a case of HTGTI in a Chinese female infant. She presented with hepatomegaly, hypertriglyceridemia, moderately elevated transamina...

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Bibliographic Details
Published in:BMC gastroenterology 2018-06, Vol.18 (1), p.96-96, Article 96
Main Authors: Li, Jia-Qi, Xie, Xin-Bao, Feng, Jia-Yan, Chen, Lian, Abuduxikuer, Kuerbanjiang, Lu, Yi, Li, Yu-Chuan, Wang, Jian-She
Format: Article
Language:English
Subjects:
Age
Alanine Transaminase - blood
Apolipoproteins
Asian Continental Ancestry Group - genetics
Aspartate Aminotransferases - blood
Birth weight
Blood
Cardiovascular disease
Case Report
Case reports
Cesarean section
Chinese (Asian people)
Cholesterol
Codon, Nonsense
Dehydrogenases
Enzymes
Fatty Liver - genetics
Female
Gastroenterology
Gene mutation
Genetic aspects
Glycerol
Glycerol-3-phosphate
Glycerol-3-phosphate dehydrogenase
Glycerolphosphate Dehydrogenase - genetics
GPD1
Health aspects
hepatic steatosis
hepatomegaly
Hepatomegaly - genetics
Heterozygote
Homozygote
Hospitals
HTGTI
Humans
Hyperlipidemia
Hypertriglyceridemia
Hypertriglyceridemia - genetics
Infant
Lipoproteins
Liver
Mutation
Parents
Patients
Sugar esters
Triglycerides
Ultrasonic imaging
Urine
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Summary:Transient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene. 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. This is the first reported case of HTGTI in Chinese, expanding the worldwide distribution of HTGTI and the mutation spectrum of GPD1.
ISSN:1471-230X
1471-230X
DOI:10.1186/s12876-018-0827-6