ArticleMolecular syndromology2022
Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel
Article in Molecular syndromology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 3 citations in OpenAlex.
- GPD1 deficiency-a rare, overlooked cause of liver disease.Journal of human genetics · 2025Article
- Identification and Validation of Lipid Metabolism-Related Biomarkers GPD1 and CEBPD in Metabolic Dysfunction-Associated Steatohepatitis.Journal of inflammation research · 2025Article
- 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
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Transient infantile hypertriglyceridemia (HTGTI) is a rare autosomal recessive disease. At present, only 20 cases of HTGTI have been reported worldwide. Hence, it is necessary to further assess the phenotypic and genetic variation spectra of HTGTI. Case Presentation: A 10-month-old male infant was diagnosed with hypertriglyceridemia, hepatomegaly, liver injury, fasting hypoglycemia, and insulin resistance. Trio-whole exome sequencing (trio-WES) was performed on the patient and his parents. Bioinformatics software was used to analyze the suspected genes and potential pathogenicity of the resulting mutant proteins. The results of trio-WES demonstrated that the patient was homozygous for a novel mutation in the Conclusion: Our results indicated that the novel homozygous mutation in
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