| H00137 | |
| H番号 | H00137 |
| 名称 | ニーマン・ピック病 A/B 型 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | nt06014(H00137) Sphingolipid degradation |
| 病因遺伝子 | SMPD1 [HSA:6609] [KO:K12350] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | オリプダーゼアルファ [DR:D10820] |
| コメント | Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B. |
| リンク | ICD-11: 5C56.0Y ICD-10: E75.2 MeSH: D052536 D052537 OMIM: 257200 607616 |
| 文献 | PMID:18567738 著者 Smith EL, Schuchman EH タイトル The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases. 雑誌 FASEB J 22:3419-31 (2008) DOI:10.1096/fj.08-108043 PMID:18708002 著者 Heese BA タイトル Current strategies in the management of lysosomal storage diseases. 雑誌 Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:17632693 著者 Schuchman EH タイトル The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. 雑誌 J Inherit Metab Dis 30:654-63 (2007) DOI:10.1007/s10545-007-0632-9 PMID:10760463 著者 Ridgway ND タイトル Interactions between metabolism and intracellular distribution of cholesterol and sphingomyelin. 雑誌 Biochim Biophys Acta 1484:129-41 (2000) DOI:10.1016/S1388-1981(00)00006-8 PMID:19944693 著者 Schuchman EH タイトル Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease. 雑誌 FEBS Lett 584:1895-900 (2010) DOI:10.1016/j.febslet.2009.11.083 |