| H00137 | |
| H number | H00137 |
| Name | Niemann-Pick disease type A/B |
| 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. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | nt06014(H00137) Sphingolipid degradation |
| Gene | SMPD1 [HSA:6609] [KO:K12350] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Olipudase alfa [DR:D10820] |
| Comment | Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B. |
| Other DBs | ICD-11: 5C56.0Y ICD-10: E75.2 MeSH: D052536 D052537 OMIM: 257200 607616 |
| Reference | PMID:18567738 AUTHORS Smith EL, Schuchman EH TITLE The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases. JOURNAL FASEB J 22:3419-31 (2008) DOI:10.1096/fj.08-108043 PMID:18708002 AUTHORS Heese BA TITLE Current strategies in the management of lysosomal storage diseases. JOURNAL Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:17632693 AUTHORS Schuchman EH TITLE The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. JOURNAL J Inherit Metab Dis 30:654-63 (2007) DOI:10.1007/s10545-007-0632-9 PMID:10760463 AUTHORS Ridgway ND TITLE Interactions between metabolism and intracellular distribution of cholesterol and sphingomyelin. JOURNAL Biochim Biophys Acta 1484:129-41 (2000) DOI:10.1016/S1388-1981(00)00006-8 PMID:19944693 AUTHORS Schuchman EH TITLE Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease. JOURNAL FEBS Lett 584:1895-900 (2010) DOI:10.1016/j.febslet.2009.11.083 |