KEGG DISEASE: GM2 gangliosidoses

KEGG

DISEASE: GM2 gangliosidoses

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 disorder, Lysosomal disease

Brite

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
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
  nt06014  Sphingolipid degradation
   H00124  GM2 gangliosidoses

Pathway

Lysosome

Glycosaminoglycan degradation

Other glycan degradation

Glycosphingolipid biosynthesis - globo and isoglobo series

Glycosphingolipid biosynthesis - ganglio series

Network

nt06014 Sphingolipid degradation

Gene

(Type I) HEXA [HSA:3073] [KO:K12373]
(Type II) HEXB [HSA:3074] [KO:K12373]
(AB variant) GM2A [HSA:2760] [KO:K12383]

Other DBs

ICD-11:

ICD-10:

MeSH:

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

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

LinkDB

» Japanese version

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