ArticleJournal of inherited metabolic disease2016
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.
Article in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- Clinical, Laboratory, and Molecular Characteristics ofGastroenterology research and practice · 2026Article
- Article
- 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
- Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a NovelMolecular syndromology · 2022Article
- Identifying Patients with Familial Chylomicronemia Syndrome Using FCS Score-Based Data Mining Methods.Journal of clinical medicine · 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
- Transient Infantile Hypertriglyceridemia and Hepatic Steatosis in an Infant with GPD1 Mutation.Indian journal of pediatrics · 2021Article
- GPD1 Deficiency - Underdiagnosed Cause of Liver Disease.Indian journal of pediatrics · 2021Article
- Case Report: Identification of a Novel Homozygous Mutation inFrontiers in genetics · 2021Article
- Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiency.JIMD reports · 2020Article
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report.BMC gastroenterology · 2018Article
- 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
18 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transient infantile hypertriglyceridemia (HTGT1; OMIM #614480) is a rare autosomal recessive disorder, which manifests in early infancy with transient hypertriglyceridemia, hepatomegaly, elevated liver enzymes, persistent fatty liver and hepatic fibrosis. This rare clinical entity is caused by inactivating mutations in the GPD1 gene, which encodes the cytosolic isoform of glycerol-3-phosphate dehydrogenase. Here we report on four patients from three unrelated families of diverse ethnic origins, who presented with hepatomegaly, liver steatosis, hypertriglyceridemia, with or without fasting ketotic hypoglycemia. Whole exome sequencing revealed the affected individuals to harbor deleterious biallelic mutations in the GPD1 gene, including the previously undescribed c.806G > A (p.Arg269Gln) and c.640T > C (p.Cys214Arg) mutations. The clinical features in three of our patients showed several differences compared to the original reports. One subject presented with recurrent episodes of fasting hypoglycemia along with hepatomegaly, hypetriglyceridemia, and elevated liver enzymes; the second showed a severe liver disease, with intrahepatic cholestasis associated with kidney involvement; finally, the third presented persistent hypertriglyceridemia at the age of 30 years. These findings expand the current knowledge of this rare disorder, both with regard to the phenotype and molecular basis. The enlarged phenotypic spectrum of glycerol-3-phosphate dehydrogenase 1 deficiency can mimic other inborn errors of metabolism with liver involvement and should alert clinicians to recognize this entity by considering GPD1 mutations in appropriate clinical settings.
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