ArticleBMC gastroenterology2018
A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report.
Article in BMC gastroenterology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Clinical, Laboratory, and Molecular Characteristics ofGastroenterology research and practice · 2026Article
- GPD1 deficiency-a rare, overlooked cause of liver disease.Journal of human genetics · 2025Article
- Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking.BMC medical genomics · 2025Article
- Glycerol 3-phosphate dehydrogenases (1 and 2) in cancer and other diseases.Experimental & molecular medicine · 2024Review
- Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a NovelMolecular syndromology · 2022Article
- Case of GPD1 deficiency causing hypertriglyceridaemia and non-alcoholic steatohepatitis.BMJ case reports · 2022Article
- Transient infantile hypertriglyceridaemia due to homozygous mutation in GPD1 presenting in childhood with hepatic adenoma.BMJ case reports · 2022Article
- Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene.Frontiers in genetics · 2022Article
- [A case of transient infantile hypertriglyceridemia caused by mutations in the glycerol-3-phosphate dehydrogenase 1 gene].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2021Article
- Case Report: Identification of a Novel Homozygous Mutation inFrontiers in genetics · 2021Article
- GPD1 Deficiency - Underdiagnosed Cause of Liver Disease.Indian journal of pediatrics · 2021Article
- Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiency.JIMD reports · 2020Article
- Glycerol-3-Phosphate Dehydrogenase 1 Deficiency and Steatotic Liver Disease in Children: Our Cases and Review of Literature.Journal of clinical and experimental hepatologyArticle
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundTransient 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.
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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