Infantile Hypertriglyceridemia Secondary to GPD1 Defects: An Underdiagnosed Differential of Infantile Hepatomegaly and Hepatic Steatosis
Year: 2025
Type: article
Study design: Case Report
Abstract: Disorders of carbohydrate and lipid metabolism are the leading underlying etiologies of hepatomegaly and hepatic steatosis in young children. With ever increasing access to genetic analysis methods, previously hitherto unknown and under-diagnosed entities like transient infantile hypertriglyceridemia, have been recently added as one of the differential diagnosis for the same. As per the available literature, this entity has been reported to have a benign course, however with increasing number of reported cases, there is yet much more to explore. We hereby present two such pediatric cases presenting with infantile onset hepatomegaly and hepatic steatosis along with a review of literature for this entity.
Source: Journal of Pediatric Genetics
Authors: Snigdha Verma, Vikrant Sood, Bikrant Bihari Lal, Rajeev Khanna, Chhagan Bihari, Seema Alam
Institution: Institute of Liver and Biliary Sciences
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4414966462
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