The use of Lyso-Gb3 as a Biomarker for Fabry Disease

In this podcast, Dr Uma Ramaswami, Consultant in Inherited Metabolic Disorders at Royal Free Hospital in London and Honorary Associate Professor at the Genetics and Genomic Medicine UCL, joins host Devan Seedher, Medical Advisor at Takeda UK, to discuss the systematic review on Lyso-Gb3 as a Biomarker for Fabry Disease, in which she was lead author. ​

The conversation explores why timely and accurate diagnosis remains a major challenge, often delaying treatment, and examines how lyso-Gb3 can support earlier patient identification. Dr Ramaswami highlights the diagnostic performance of the biomarker across diverse patient groups, with particular relevance for classical Fabry Disease. The episode also considers the potential benefits of integrating lyso-Gb3 into routine diagnostic and monitoring protocols to reduce delays and improve outcomes for patients.​