KEGG   DISEASE: GM1 gangliosidosisHelp
Entry
H00281                      Disease                                

Name
GM1 gangliosidosis
  Supergrp
Gangliosidosis [DS:H00426]
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
Description
GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by deficient beta-galactosidase activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous tissues and a highly variable storage of keratan sulfate and glycopeptides in visceral and skeletal tissues. There are three main clinical variants, infantile (type I), juvenile (type II), and adult (type III), categorized by severity of symptoms and variable residual enzymatic activity of beta-galactosidase.
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
   H00281  GM1 gangliosidosis
  Lysosomal storage diseases
   H00281  GM1 gangliosidosis
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00281  GM1 gangliosidosis
BRITE hierarchy
Pathway
hsa00511  Other glycan degradation
hsa00531  Glycosaminoglycan degradation
hsa00600  Sphingolipid metabolism
hsa00604  Glycosphingolipid biosynthesis - ganglio series
hsa04142  Lysosome
Gene
GLB1; beta-galactosidase [HSA:2720] [KO:K12309]
Comment
Morquio syndrome B is allelic to the various forms of GM1-gangliosidosis (see, H00123). Morquio syndrome B is characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal.
Other DBs
ICD-11: 5C56.00
ICD-10: E75.1
MeSH: D016537
OMIM: 230500 230600 230650
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
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
  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

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