Causes, symptoms and diagnosing ASMD – A rare lysosomal storage disorder
Episode description
Today we will discuss a rare, inherited metabolic disorder known as ASMD, acid sphingomyelinase deficiency (or historically known as Niemann-Pick types A, A/B, and B). This genetic condition is very rare. It can be diagnosed, after suspicion, by different screening test. But symptoms may vary greatly, and has overlap with several other disorders, and the road to an accurate diagnosis can therefore be challenging.
In today’s episode we have the pleasure of welcoming Professor David Cassiman in the studio. He is a specialist in hepatology with profound knowledge of metabolic diseases. He currently works at the University Hospital of Leuven (Belgium) where he is the head of the Center for Heridatary Metabolic Diseases. He has spent several years of research, diagnosing, and treating patients with different rare metabolic disorders.
MAT-BE-2301084 (ver.1) 3 Nov 2023