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Niemann-Pick Disease (NPD) is a rare lysosomal storage disorder. Four types are identified: type A-B (NP-A and NP-B) caused by a defect of acid sphingomyelinase (ASM), and type C-D due… Click to show full abstract
Niemann-Pick Disease (NPD) is a rare lysosomal storage disorder. Four types are identified: type A-B (NP-A and NP-B) caused by a defect of acid sphingomyelinase (ASM), and type C-D due to a defect of cholesterol transport. ASM catalyzes the cleavage of sphingomyelin to phosphorylcoline and ceramide. The accumulation of sphingomyelin within the cells of the reticuloendothelial system, in hepatocytes and in some cases in neurons, results in a progressive multisystem disease, with a broad clinical spectrum of visceral and neurological involvement (1). This article is protected by copyright. All rights reserved.
Journal Title: Liver Transplantation
Year Published: 2019
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