Hepatomegaly and Hepatic Steatosis as Presenting Features of GPD1-Related Transient Infantile Hypertriglyceridemia in a Consanguineous Family: A Case Report
Year: 2026
Type: article
Study design: Case Report
Abstract: GPD1-related transient infantile hypertriglyceridemia (HTGTI) is a rare autosomal recessive disorder characterized by early-onset hypertriglyceridemia, hepatomegaly, hepatic steatosis, and elevated aminotransferase levels, with hepatic fibrosis and persistent liver abnormalities reported in some cases.We describe a young child with abdominal distension, marked hepatomegaly, hepatic steatosis on ultrasonography, and an initially reported alanine aminotransferase concentration of 83 U/L.Initial metabolic screening was reported as unrevealing.Solo whole-exome sequencing identified a homozygous GPD1 variant, NM_005276.3:c.953+1G>A,classified as likely pathogenic by the testing laboratory and interpreted as consistent with GPD1-related HTGTI.The available lipid panel showed triglycerides of 133 mg/dL, which does not demonstrate hypertriglyceridemia using the laboratory's stated desirable threshold of less than 150 mg/dL; fasting status and historical lipid results remain to be confirmed.Parent-reported fasting-associated symptoms have not been confirmed by documented glucose measurements.This case highlights the role of molecular testing in unexplained childhood hepatomegaly and steatosis while emphasizing the need to distinguish a molecular diagnosis from biochemical features that are not documented in the available record. Longitudinal assessment of the lipid profile and liver disease, parental variant testing, and genetic counseling are warranted.
Source: Cureus
Authors: Hadi Fakih, Fatima Fakih, Ali H Fakih
Institution: Saint Joseph University
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7224095327