| H00424 | |
| H番号 | H00424 |
| 名称 | スフィンゴミエリン分解異常 |
| 概要 | Defects in the degradation of sphingomyelin are a group of autosomal recessive lysosomal storage diseases including Niemann-Pick disease (NPD), type A/B and Farber lipogranulomatosis. NPD is caused by deficient acid sphingomyelinase (ASM) activity, and Farber lipogranulomatosis is caused by acid ceramidase deficiency, resulting in accumulation of sphingomyelin, ceramide and cholesterol in many organs. ASM and acid ceramidase are key enzymes of the two steps degradation of sphingomyelin and play important roles in normal membrane turnover. |
| 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 | - |
| 病因遺伝子 | (NPD) SMPD1 [HSA:6609] [KO:K12350] (Farber) ASAH1 [HSA:427] [KO:K12348] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | NPD typeA is the infantile form characterized by a rapidly progressive neurodegenerative course that leads to early death. NPD typeB 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. |
| リンク | ICD-11: 5C56.0Y ICD-10: E75.2 OMIM: 257200 607616 228000 |
| 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 (NPC) 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 PMID:17064658 (Farber) 著者 Park JH, Schuchman EH タイトル Acid ceramidase and human disease. 雑誌 Biochim Biophys Acta 1758:2133-8 (2006) DOI:10.1016/j.bbamem.2006.08.019 PMID:11241842 (Farber) 著者 Bar J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K タイトル Molecular analysis of acid ceramidase deficiency in patients with Farber disease. 雑誌 Hum Mutat 17:199-209 (2001) DOI:10.1002/humu.5 |