Acid Sphingomyelinase deficiency (ASMD), also known as Niemann-Pick Type A/B, is characterized by an enzyme deficiency that leads to the toxic accumulation of sphingomyelin.

Recent studies show for every 3 – 5 Gaucher patients there is one ASMD patient.

ASMD and Gaucher diseases are the result of different enzyme deficiencies however they have similar clinical presentations.  Thus, there is an increased potential that patients affected with ASMD are referred for testing for Gaucher disease. Based on our prospective study of 14,830 individuals from 61 countries, we observed frequent incidence of ASMD in cases initially suspected of Gaucher disease. In some regions, the occurrence was as high as one ASMD confirmed case to three Gaucher disease confirmed cases. The presented study clearly underlines the urgency of a differential diagnostic strategy using enzyme deficiency and biomarker testing combined with genetic confirmation for suspected Gaucher patients. For more details on the study, see our poster presented at the WORLDSymposium in 2020.

Our Medical Laboratory offers a differential diagnostic panel for ASMD, Gaucher and other related disorders which include enzymatic testing for GBA (acid β-Glucosidase), ASM (acid Sphingomyelinase) and LAL (lysosomal acid Lipase) together with biomarker Lyso-GL-1 (Lyso-Gb1), and our new, validated Lyso-Sphingomylin (Lyso-SPM) test. Genetic confirmatory testing is included in the panel.