ArticleJournal of clinical and experimental hepatology
A Novel cause of Massive Hepatosplenomegaly with Fibrosis in two children: Transient Infantile Hypertriglyceridemia.
Article in Journal of clinical and experimental hepatology. 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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Who cites it
3 citing papers in PubMed, 3 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
- 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
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Transient infantile hypertriglyceridemia (TIH) is a syndrome of hypertriglyceridemia, fatty liver, and deranged liver functions with progression to fibrosis and cirrhosis. It is an autosomal recessive disorder caused by mutations in Glycerol-3-phosphate dehydrogenase 1 gene present on Chromosome 12q12-q13, and has been reported in Israeli Arab families with high consanguinity. TIH is suspected by high serum triglyceride levels and steatosis on liver biopsy; however, diagnosis is confirmed on clinical exome sequencing Clinical description: We present two cases of TIH belonging to the indigenous Hindu, hilly population of Himachal Pradesh in North India with no history of either consanguinity or family history. Management and outcome: The parents of both the cases were counselled regarding the disease and importance of growth and lipid level monitoring Conclusion: Though TIH is an extremely rare entity, awareness about it is required as it is a contributor to non-alcoholic fatty liver disease (NAFLD) in children. Any child presenting with hepatomegaly and elevated fasting triglyceride levels should be further investigated for TIH.
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