| H00426 | |
| H番号 | H00426 |
| 名称 | ガングリオシドーシス |
| 概要 | Defects in the degradation of ganglioside is a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes or their activators that play important roles in the degradation of ganglioside. The lack of a single enzyme leads to the complete blockage of the catabolic chain and results in the accumulation of undegraded substrates such as keratan sulfate, gangliosides, glucosylceramide and glycopeptides in neurons and skeletal tissues. Deficiency of the GM2 activator protein causes the AB variant of GM2 gangliosidosis. |
| 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 | (GM1G) GLB1 [HSA:2720] [KO:K12309] (GM2G1) HEXA [HSA:3073] [KO:K12373] (GM2G2) HEXB [HSA:3074] [KO:K12373] (GM2AB) GM2A [HSA:2760] [KO:K12383] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C56.00 ICD-10: E75.1 OMIM: 230500 230600 230650 268800 272800 272750 |
| 文献 | PMID:19472408 (GLB1) 著者 Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E タイトル GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 雑誌 Hum Mutat 30:1214-21 (2009) DOI:10.1002/humu.21031 PMID:12019216 著者 Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL タイトル Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. 雑誌 Hum Mol Genet 11:1343-50 (2002) DOI:10.1093/hmg/11.11.1343 PMID:2525553 (HEXA, HEXB) 著者 Neufeld EF タイトル Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase. 雑誌 J Biol Chem 264:10927-30 (1989) PMID:8244332 (GM2A) 著者 Schroder M, Schnabel D, Hurwitz R, Young E, Suzuki K, Sandhoff K タイトル Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. 雑誌 Hum Genet 92:437-40 (1993) DOI:10.1007/BF00216446 |