KEGG   DISEASE: GangliosidosisHelp
Entry
H00426                      Disease                                

Name
Gangliosidosis
  Subgroup
GM1 gangliosidosis [DS:H00281]
GM2 gangliosidoses [DS:H00124]
  Supergrp
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
Description
Defects in the degradation of ganglioside is a group of autosomal recessive lysosomal storage diseases caused by deficient activty 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. And saposin C is an activator of beta-glucocerebrosidase.
Category
Inherited metabolic disease; Lysosomal storage disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Lysosomal storage diseases
   H00426  Gangliosidosis
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00426  Gangliosidosis
BRITE hierarchy
Pathway
hsa00511  Other glycan degradation
hsa00604  Glycosphingolipid biosynthesis - ganglio series
hsa00531  Glycosaminoglycan degradation
hsa00600  Sphingolipid metabolism
hsa04142  Lysosome
Gene
(GM1) GLB1; beta-galactosidase [HSA:2720] [KO:K12309]
(GM2 type1) HEXA; beta-hexosaminidase A [HSA:3073] [KO:K12373]
(GM2 type2) HEXB; beta-hexosaminidase B [HSA:3074] [KO:K12373]
(GM2 AB variant) GM2A; ganglioside GM2 activator [HSA:2760] [KO:K12383]
Comment
Morquio syndrome B is non-neuronopathic form of GM1-gangliosidosis (see, H00123).
Some diseases are described as some phenotypes.
(GM1) Type 1: the severe infantile form. Type 2: the juvenile form. Type 3 the mild adult form
(Gaucher) Type 1: non-neuronopathic form. Type2: acute infantile neuropathic form. Type3: the chronic neuropathic form.
Other DBs
ICD-11: 5C56.00
ICD-10: E75.1
OMIM: 230500 230600 230650 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
PMID:19472408 (GM1)
  Authors
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
  Title
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
  Journal
Hum Mutat 30:1214-21 (2009)
DOI:10.1002/humu.21031
Reference
PMID:18202827 (GM1/ therapy)
  Authors
Suzuki Y
  Title
Chemical chaperone therapy for GM1-gangliosidosis.
  Journal
Cell Mol Life Sci 65:351-3 (2008)
DOI:10.1007/s00018-008-7470-2
Reference
PMID:12019216 (GM2)
  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:16801539 (GM2)
  Authors
Cachon-Gonzalez MB, Wang SZ, Lynch A, Ziegler R, Cheng SH, Cox TM
  Title
Effective gene therapy in an authentic model of Tay-Sachs-related diseases.
  Journal
Proc Natl Acad Sci U S A 103:10373-8 (2006)
DOI:10.1073/pnas.0603765103
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
Reference
PMID:18339196 (Gaucher)
  Authors
Platt FM, Jeyakumar M
  Title
Substrate reduction therapy.
  Journal
Acta Paediatr Suppl 97:88-93 (2008)
DOI:10.1111/j.1651-2227.2008.00656.x

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