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Updated: Sep 26, 2025

A Fluorescence-based Assay for Characterization and Quantification of Lipid Droplet Formation in Human Intestinal Organoids
Published on: October 13, 2019
Case of GPD1 deficiency causing hypertriglyceridaemia and non-alcoholic steatohepatitis
Leo Polchar1, Pramodh Vallabhaneni2
1Swansea University College of Medicine, Swansea, Swansea, UK.
Abstract:
We report a case of a young girl of South Asian descent presented with faltering growth, hepatomegaly, hypertriglyceridaemia and raised transaminases. Subsequent ultrasound scans identified fatty infiltration in her liver, and a liver biopsy showed fibrosis and steatosis. The patient's serum triglycerides normalised without intervention by the age of 28 months. At age 6, whole-exome sequencing of the patient's genome identified novel homozygous variants in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene, GPD1 c.500G>A (p.Gly167Asp), leading to a diagnosis of GPD1 deficiency.
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