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Pompe disease

Reviewed October 2006

What is Pompe disease?

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.

One type of Pompe disease, known as infantile onset, begins within a few months of birth. Infants with this disorder typically exhibit symptoms such as muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver and heart, and heart failure. Affected infants may also have poor feeding, failure to gain weight and grow at the expected rate (failure to thrive), and breathing problems. Most infants with Pompe disease cannot hold up their heads or move normally. As the disease progresses, swallowing may become difficult and the tongue may become abnormally enlarged (macroglossia). Most children with this form of Pompe disease do not survive beyond the age of 2.

Other forms of Pompe disease are known as late onset and may not show signs and symptoms until childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset form of this disorder. Most individuals experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing.

How common is Pompe disease?

Pompe disease affects about 1 in 40,000 people.

What genes are related to Pompe disease?

Mutations in the GAA gene cause Pompe disease.

The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (commonly called acid maltase). This enzyme is active in lysosomes, which are structures that serve as the cell's recycling center. The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells. Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen, allowing it to build up in the body's cells. Over time, this buildup damages cells throughout the body, particularly muscle cells.

How do people inherit Pompe disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about treatment for Pompe disease?

You may find information on treatment or management of Pompe disease or some of its symptoms in the links below, particularly the links for Gene Reviews, Educational resources, and Patient support.

Where can I find additional information about Pompe disease?

You may find the following resources about Pompe disease helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    Health Topic: Metabolic Disorders (http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html)
  • Additional NIH Resources - National Institutes of Health
    • National Institute of Neurological Disorders and Stroke: Myopathy Information Page (http://www.ninds.nih.gov/disorders/myopathy/myopathy.htm)
    • National Institute of Neurological Disorders and Stroke: Pompe Disease Information Page (http://www.ninds.nih.gov/disorders/pompe/pompe.htm)
  • Educational resources - Information pages
    • Erasmus Medical Center Rotterdam (http://www.pompecenter.nl/en/)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,199/)
    • National Organization for Rare Disorders: The Physician's Guide to Pompe Disease (http://www.rarediseases.org/programs/pompe_brochure.html)
    • Orphanet (http://www.orpha.net//consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=365)
    • Pompe Registry (http://www.lsdregistry.net/pomperegistry/)
    • The Merck Manual of Medical Information, Second Home Edition, Online Version (http://www.merck.com/mmhe/sec23/ch282/ch282b.html?qt=glycogen=sh#sec23-ch282-ch282b-1430)
  • Patient support - For patients and families
    • Acid Maltase Deficiency Association (http://www.amda-pompe.org/)
    • Association for Glycogen Storage Disease (http://www.agsdus.org/)
    • Children Living with Inherited Metabolic Diseases (CLIMB) (http://www.climb.org.uk)
    • Muscular Dystrophy Association (http://www.mda.org/disease/amd.html)
    • National Organization for Rare Disorders (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pompe%20Disease)
    • Pompe Community (http://www.pompe.com/)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd2)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=3166)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22glycogen+storage+disease+type+II%22+OR+%22Glycogen+Storage+Disease+Type+II%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Glycogen+Storage+Disease+Type+II[MAJR])+AND+(glycogen+storage+disease+type+II[TIAB])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1800+Days)
  • Online Books - Medical and science texts
    Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID): Glycogen Storage Disease Type II: Acid α-Glucosidase (Acid Maltase) Deficiency (http://books.mcgraw-hill.com/getommbid.php?isbn=0071459960&template=ommbid&c=135)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232300)

What other names do people use for Pompe disease?

  • Acid Maltase Deficiency Disease
  • Aglucosidase alfa
  • alpha-1,4-Glucosidase deficiency
  • cardiomegalia glycogenica diffusa
  • Deficiency of alpha-glucosidase
  • Deficiency of lysosomal alpha-glucosidase
  • GAA deficiency
  • Generalized Glycogenosis, Cardiac Form
  • Glycogenosis Type II
  • Glycogen Storage Disease Type II
  • GSD II
  • Lysosomal alpha-1,4-glucosidase deficiency
  • Pompe's Disease
  • Pompes Disease

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Pompe disease?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Pompe disease?

acids ; autosomal ; autosomal recessive ; cardiac ; cell ; deficiency ; enzyme ; failure to thrive ; gene ; glucose ; glycogen ; heart failure ; hypotonia ; lysosome ; macroglossia ; muscle tone ; mutation ; recessive ; sign ; symptom ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Case LE, Kishnani PS. Physical therapy management of Pompe disease. Genet Med. 2006 May;8(5):318-27. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16702883)
  • Hesselink RP, Wagenmakers AJ, Drost MR, Van der Vusse GJ. Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. Biochim Biophys Acta. 2003 Mar 20;1637(2):164-70. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12633905)
  • Hoffmann B, Mayatepek E. Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities. Neuropediatrics. 2005 Oct;36(5):285-9. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16217702)
  • Howell RR, Byrne B, Darras BT, Kishnani P, Nicolino M, van der Ploeg A. Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet Med. 2006 May;8(5):289-96. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16702878)
  • Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004 May;144(5 Suppl):S35-43. Review. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15126982)
  • Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006 May;148(5):671-676. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16737883)
  • 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. Pompe disease diagnosis and management guideline. Genet Med. 2006 May;8(5):267-88. No abstract available. Erratum in: Genet Med. 2006 Jun;8(6):382. ACMG Work Group on Management of Pompe Disease [removed]; Case, Laura [corrected to Case, Laura E]. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16702877)
  • van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, Bakker HD, Loonen MC, de Klerk JB, Reuser AJ, van der Ploeg AT. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003 Aug;112(2):332-40. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12897283)
  • Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, Millington DS, Keutzer J, Chen YT, Bali D. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet Med. 2006 May;8(5):302-6. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16702880)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2006
Published: January 23, 2009