| Entry |
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| Name |
Niemann-Pick disease type A/B |
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| Subgroup |
Niemann-Pick disease, type A
Niemann-Pick disease, type B |
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| Supergrp |
Defects in the degradation of sphingomyelin [DS: H00424] Sphingolipidosis [DS: H00423] Lysosomal storage disease [DS: H01425] |
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| Description |
Niemann-Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by deficient acid sphingomyelinase (ASM) activity, resulting in accumulation of sphingomyelin and cholesterol in many organs. ASM plays an important role in normal membrane turnover and is one of the key enzymes responsible for the production of ceramide. Type A NPD is the infantile form characterized by a rapidly progressive neurodegenerative course that leads to early death. Type B NPD is the later-onset form in which patients exhibit little or no neurological symptoms, but may have severe and progressive visceral organ abnormalities, including hepatosplenomegaly and cardiovascular disease. The different clinical presentations of Types A and B NPD are likely due to small differences in the amount of residual, functional ASM activity.
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| Category |
Inherited metabolic disease; Lysosomal storage disease
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| Brite |
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of lipid/glycolipid metabolism
H00137 Niemann-Pick disease type A/B
Lysosomal storage diseases
H00137 Niemann-Pick disease type A/B
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H00137 Niemann-Pick disease type A/B
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| Pathway |
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| Network |
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| Element |
| N00650 | SMPD1 deficiency in sphingolipid degradation |
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| Gene |
SMPD1; sphingomyelin phosphodiesterase [HSA: 6609] [KO: K12350]
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| Comment |
Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B.
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| Other DBs |
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| Reference |
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| Authors |
Smith EL, Schuchman EH |
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| Title |
The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases. |
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| Journal |
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| Reference |
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| Authors |
Heese BA |
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| Title |
Current strategies in the management of lysosomal storage diseases. |
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| Journal |
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| Reference |
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| Authors |
Schuchman EH |
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| Title |
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. |
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| Journal |
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| Reference |
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| Authors |
Ridgway ND |
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| Title |
Interactions between metabolism and intracellular distribution of cholesterol and sphingomyelin. |
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| Journal |
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| Reference |
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| Authors |
Schuchman EH |
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| Title |
Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease. |
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| Journal |
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| LinkDB |
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