| H00124 | |
| H番号 | H00124 |
| 名称 | GM2 ガングリオシドーシス |
| 概要 | GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by deficiency of beta-hexosaminiase or the noncatalytic GM2 activator in glycosphingolipid catabolism. The enzymatic defect results in the accumulation of GM2 ganglioside in neurons that mainly affects motor and spinocerebellar function. Mutations of the HEXA gene cause deficiency of the beta-hexosaminidase A and result in Tay-Sachs disease. Mutations of the HEXB gene, encoding the beta-subunit, cause deficiency of both enzymes (beta-hexosaminidase A and B), leading to Sandhoff disease. Deficiency of the GM2 activator protein, which mediates the interaction between the water-soluble beta-hexosaminidase A and GM2 ganglioside, 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 | nt06014(H00124) Sphingolipid degradation |
| 病因遺伝子 | (Type I) HEXA [HSA:3073] [KO:K12373] (Type II) HEXB [HSA:3074] [KO:K12373] (AB variant) 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: E75.0 MeSH: D020143 OMIM: 268800 272800 272750 |
| 文献 | 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:16854371 著者 Kolter T, Sandhoff K タイトル Sphingolipid metabolism diseases. 雑誌 Biochim Biophys Acta 1758:2057-79 (2006) DOI:10.1016/j.bbamem.2006.05.027 PMID:15647514 著者 Winchester B タイトル Lysosomal metabolism of glycoproteins. 雑誌 Glycobiology 15:1R-15R (2005) DOI:10.1093/glycob/cwi041 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:19595619 著者 Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT タイトル Substrate reduction therapy in juvenile GM2 gangliosidosis. 雑誌 Mol Genet Metab 98:215-24 (2009) DOI:10.1016/j.ymgme.2009.06.005 |