Causes, symptoms and diagnosing ASMD – A rare lysosomal storage disorder
Oct 31 2023
38 mins
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 diagnos