Incidental diagnosis of glycerol kinase deficiency during investigation of hyponatraemia and acute kidney injury

Abstract

Glycerol kinase deficiency (GKD) is a rare X-linked metabolic disorder often presenting in infancy or childhood. In adults, it may remain undiagnosed due to nonspecific symptoms or incidental biochemical findings. We report a case of incidental GKD diagnosis in an adult male presenting with hyponatraemia and acute kidney injury (AKI). Discrepancies between triglyceride concentrations and lipaemic indices prompted further investigation, revealing severe hyperglycerolaemia due to GKD. This case highlights the importance of considering GKD in adults with unexplained hypertriglyceridaemia, especially when triglyceride concentrations are discordant with lipaemic indices and other lipid profile parameters. Genetic testing confirmed that the patient was hemizygous for a likely pathogenic variant in the GK gene, consistent with a genetic diagnosis of glycerol kinase deficiency.