Tag: sphingomyelinase deficiency


NIEMANN-PICK DISEASE

Introduction and Definition Niemann-Pick Disease (NPD) represents a cluster of rare, inherited metabolic disorders characterized primarily by the inability of the body’s cellular machinery to properly process and store lipids, or fats. Classified as a lysosomal storage disorder, NPD results from specific enzyme deficiencies or defects in protein function that lead to the excessive accumulation […]

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