eng Oriental Scientific Publishing Company Biomedical and Pharmacology Journal 0974-6242 2026-05-20 19 2 71948 article Swapnil Das 1 Fatiha Sultana Fiha 1 Irfan Hoque Tanjid 1 Rohit Datta 1 Dip Mohajon 1 Pritesh Ranjan Dash 2 Department of Pharmacy, University of Science and Technology Chittagong, (USTC), Chittagong, Bangladesh Department of Pharmacy, ASA University Bangladesh, Shyamoli, Dhaka, Bangladesh Acid sphingomyelinase deficiency (ASMD), also referred to as Niemann-Pick disease types A and B, is a rare lysosomal storage disorder. Mutations in the SMPD1 gene result in insufficient activity of the acid sphingomyelinase (ASM) enzyme, which causes acid sphingomyelinase deficiency (ASMD). This enzyme is necessary for the breakdown of sphingomyelin, a type of sphingolipid found in the membranes of animal cells, particularly in the outer leaflet of the plasma membrane. Without this enzyme, sphingomyelin cannot be broken down, leading to its accumulation in organs such as the liver, spleen, lungs and brain. Historically, acid sphingomyelinase deficiency (ASMD) has been classified as Niemann-Pick disease (NPD) types A and B. Type A is caused by severe deficiency in ASM leading to neurodegeneration and organ enlargement. This type typically results in death by the age of three. In contrast, type B results from partial ASM deficiency and patients typically survive but face various complications throughout their lives. Currently, treatment options for this disease are limited, although many therapeutic approaches are gradually developing. Early diagnosis and effective management can minimize the complications of this disease and increase life expectancy. So, this review aims to provide a comprehensive understanding of ASMD, including its epidemiology, pathogenesis, pathophysiology, clinical presentation and diagnostic approaches necessary for early detection. https://biomedpharmajournal.org/vol19no2/understanding-acid-sphingomyelinase-deficiency-from-a-clinical-molecular-and-therapeutic-perspective/ Acid Sphingomyelinase Hepatosplenomegaly Lysosomal storage disorder Lipid accumulation Neurodegeneration