KEGG   DISEASE: GM2 gangliosidosesHelp
Entry
H00124                      Disease                                

Name
GM2 gangliosidoses
  Subgroup
Tay-Sachs disease [DS:H02016]
Sandhoff disease [DS:H02017]
  Supergrp
Gangliosidosis [DS:H00426]
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
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 disease; Lysosomal storage disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00124  GM2 gangliosidoses
  Lysosomal storage diseases
   H00124  GM2 gangliosidoses
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00124  GM2 gangliosidoses
BRITE hierarchy
Pathway
hsa00511  Other glycan degradation
hsa00531  Glycosaminoglycan degradation
hsa00603  Glycosphingolipid biosynthesis - globo and isoglobo series
hsa00604  Glycosphingolipid biosynthesis - ganglio series
hsa04142  Lysosome
Gene
(Type I) HEXA; beta-hexosaminidase A [HSA:3073] [KO:K12373]
(Type II) HEXB; beta-hexosaminidase B [HSA:3074] [KO:K12373]
(AB variant) GM2A; ganglioside GM2 activator [HSA:2760] [KO:K12383]
Other DBs
ICD-11: 5C56.00
ICD-10: E75.0
MeSH: D020143
OMIM: 268800 272800 272750
Reference
  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
Reference
  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
Reference
  Authors
Winchester B
  Title
Lysosomal metabolism of glycoproteins.
  Journal
Glycobiology 15:1R-15R (2005)
DOI:10.1093/glycob/cwi041
Reference
  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
Reference
PMID:19595619 (therapy)
  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

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