Case of GPD1 deficiency causing hypertriglyceridaemia and non-alcoholic steatohepatitis

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,GPD1c.500G>A (p.Gly167Asp), leading to a diagnosis of GPD1 deficiency.