| H00124 | |
| H number | H00124 |
| Name | GM2 gangliosidoses |
| Description | 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. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | nt06014(H00124) Sphingolipid degradation |
| Gene | (Type I) HEXA [HSA:3073] [KO:K12373] (Type II) HEXB [HSA:3074] [KO:K12373] (AB variant) GM2A [HSA:2760] [KO:K12383] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C56.00 ICD-10: E75.0 MeSH: D020143 OMIM: 268800 272800 272750 |
| Reference | 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:16854371 AUTHORS Kolter T, Sandhoff K TITLE Sphingolipid metabolism diseases. JOURNAL Biochim Biophys Acta 1758:2057-79 (2006) DOI:10.1016/j.bbamem.2006.05.027 PMID:15647514 AUTHORS Winchester B TITLE Lysosomal metabolism of glycoproteins. JOURNAL Glycobiology 15:1R-15R (2005) DOI:10.1093/glycob/cwi041 PMID:12019216 AUTHORS Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL TITLE Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. JOURNAL Hum Mol Genet 11:1343-50 (2002) DOI:10.1093/hmg/11.11.1343 PMID:19595619 AUTHORS Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT TITLE Substrate reduction therapy in juvenile GM2 gangliosidosis. JOURNAL Mol Genet Metab 98:215-24 (2009) DOI:10.1016/j.ymgme.2009.06.005 |