KEGG   DISEASE: Glycogen storage disease type II
Entry
H01940                      Disease                                

Name
Glycogen storage disease type II;
Pompe disease
  Supergrp
Glycogen storage disease [DS:H00069]
Lysosomal storage disease [DS:H01425]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type II (GSDII), also known as Pompe disease, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01940  Glycogen storage disease type II
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C51  Inborn errors of carbohydrate metabolism
     H01940  Glycogen storage disease type II
Related
pathway
hsa00052  Galactose metabolism
hsa00500  Starch and sucrose metabolism
hsa04142  Lysosome
Network
nt06017  Glycogen metabolism
  Element
N00747  GAA deficiency in glycogen degradation
Gene
GAA [HSA:2548] [KO:K12316]
Drug
Alglucosidase alfa [DR:D03207]
Avalglucosidase alfa [DR:D11744]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: D006009
OMIM: 232300
Reference
  Authors
Pascual SI
  Title
Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.
  Journal
Adv Exp Med Biol 652:39-46 (2009)
DOI:10.1007/978-90-481-2813-6_4
Reference
  Authors
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS
  Title
Pompe disease diagnosis and management guideline.
  Journal
Genet Med 8:267-88 (2006)
DOI:10.1097/01.gim.0000218152.87434.f3
Reference
  Authors
Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG
  Title
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
  Journal
Neurology 64:368-70 (2005)
DOI:10.1212/01.WNL.0000149528.95362.20
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