KEGG DISEASE: Glycogen storage disease type II

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

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
    5C51  Inborn errors of carbohydrate metabolism
     H01940  Glycogen storage disease type II
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
  nt06017  Glycogen metabolism
   H01940  Glycogen storage disease type II

Pathway

Starch and sucrose metabolism

Lysosome

Network

nt06017 Glycogen metabolism

Gene

GAA [HSA:2548] [KO:K12316]

Drug

Alglucosidase alfa [DR:D03207]
Avalglucosidase alfa [DR:D11744]
Cipaglucosidase alfa [DR:D11798]
Miglustat [DR:D05032]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

LinkDB

» Japanese version

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