Reviewed February 2010
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 organs and tissues, especially muscles, impairs their ability to function normally.
Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.
The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.
The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.
The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.
How common is Pompe disease?
Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups.
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 (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. 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 effectively, which allows this sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.
Changes in this gene are associated with Pompe disease.
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 diagnosis or management of Pompe disease?
These resources address the diagnosis or management of Pompe disease and may include treatment providers.
- Baby's First Test (http://www.babysfirsttest.org/newborn-screening/conditions/pompe-disease)
- Gene Review: Glycogen Storage Disease Type II (Pompe Disease) (http://www.ncbi.nlm.nih.gov/books/NBK1261)
- Genetic Testing Registry: Glycogen storage disease, type II (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0017921)
You might also find information on the diagnosis or management of Pompe disease in
Educational resources (http://ghr.nlm.nih.gov/condition/pompe-disease/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/pompe-disease/show/Patient+support).
General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook.
Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).
To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
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 (http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html)
- Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/gard/5714/glycogen-storage-disease-type-2/resources/1)
Additional NIH Resources - National Institutes of Health
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (http://www.niams.nih.gov/Health_Info/Pompe_Disease/default.asp)
- 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
- Cincinnati Children's Hospital Medical Center (http://www.cincinnatichildrens.org/WorkArea/DownloadAsset.aspx?id=85638)
- Disease InfoSearch: Glycogen Storage Disease Type 2 (http://www.diseaseinfosearch.org/Glycogen+Storage+Disease+Type+2/3122)
- Madisons Foundation (http://www.madisonsfoundation.org/index.php?option=com_mpower&task=disease&diseaseID=199)
- Merck Manual Home Edition for Patients and Caregivers: Glycogen Storage Diseases (http://www.merckmanuals.com/home/childrens_health_issues/hereditary_metabolic_disorders/disorders_of_carbohydrate_metabolism.html)
- My46 Trait Profile (https://www.my46.org/trait-document?trait=Pompe%20disease&type=profile)
- Orphanet: Glycogen storage disease due to acid maltase deficiency (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=365)
- Pompe Registry (https://www.registrynxt.com/Pompe/Pages/Home.aspx)
Patient support - For patients and families
- Acid Maltase Deficiency Association (http://www.amda-pompe.org/)
- Association for Glycogen Storage Disease (http://www.agsdus.org/html/typeiigsd.html)
- Association for Glycogen Storage Disease UK (http://www.agsd.org.uk/)
- Children Living with Inherited Metabolic Diseases (CLIMB) (UK) (http://www.climb.org.uk/)
- International Pompe Association (http://worldpompe.org/)
- Muscular Dystrophy Association (http://mda.org/disease/metabolic-diseases-of-muscle)
- National Organization for Rare Disorders (https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/404/viewAbstract)
- Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/glycogen.html)
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/books/NBK1261)
Genetic Testing Registry - Repository of genetic test information
- Genetic Testing Registry: Glycogen storage disease, type II (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0017921)
- ClinicalTrials.gov - Linking patients to medical research (https://clinicaltrials.gov/ct2/results?cond=%22Glycogen%20Storage%20Disease%20Type%20II%22%20OR%20%22Pompe%20disease%22)
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28Glycogen%20Storage%20Disease%20Type%20II%5BMAJR%5D%29%20AND%20%28%28glycogen%20storage%20disease%20type%20II%5BTIAB%5D%29%20OR%20%28pompe*%5BTIAB%5D%29%20OR%20%28acid%20maltase%20deficiency%5BTIAB%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/232300)
What other names do people use for Pompe disease?
- acid maltase deficiency
- acid maltase deficiency disease
- alpha-1,4-glucosidase deficiency
- deficiency of alpha-glucosidase
- GAA deficiency
- glycogenosis Type II
- glycogen storage disease type II
- GSD II
- Pompe's disease
For more information about naming genetic conditions, see the Genetics Home Reference
Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide)
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?
Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/gard).
What glossary definitions help with understanding Pompe disease?
autosomal recessive ;
failure to thrive ;
heart failure ;
muscle tone ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A. Diagnosis of glycogenosis type II. Neurology. 2008 Dec 2;71(23 Suppl 2):S4-11. doi: 10.1212/WNL.0b013e31818da91e. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19047572?dopt=Abstract)
- Chien YH, Lee NC, Thurberg BL, Chiang SC, Zhang XK, Keutzer J, Huang AC, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009 Dec;124(6):e1116-25. doi: 10.1542/peds.2008-3667. (http://www.ncbi.nlm.nih.gov/pubmed/19948615?dopt=Abstract)
- Fukuda T, Roberts A, Plotz PH, Raben N. Acid alpha-glucosidase deficiency (Pompe disease). Curr Neurol Neurosci Rep. 2007 Jan;7(1):71-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17217857?dopt=Abstract)
- 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/pubmed/12633905?dopt=Abstract)
- 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/pubmed/16217702?dopt=Abstract)
- 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/pubmed/16702878?dopt=Abstract)
- Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004 May;144(5 Suppl):S35-43. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15126982?dopt=Abstract)
- 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/pubmed/16737883?dopt=Abstract)
- 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. 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/pubmed/16702877?dopt=Abstract)
- 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/pubmed/12897283?dopt=Abstract)
- van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18929906?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.