Pompe disease

Common Name(s)

Pompe disease, Acid maltase deficiency disease, Glycogen storage disease type 2, Glucosidase acid-1,4-alpha deficiency

Pompe disease, also acid maltase deficiency disease, is an inherited metabolic disorder caused by an inborn lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the body. This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures within cells that break down waste products within the cell. This accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.  Glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression. In 2006, the U.S. Food and Drug Administration (FDA) approved the enzyme replacement therapy Myozyme as a treatment for all patients with glycogen storage disease type 2.
 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pompe disease" for support, advocacy or research.

Acid Maltase Deficiency Association

The Acid Maltase Deficiency Association, was formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, also known as Pompe Disease.

Last Updated: 9 Nov 2012

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Association for Glycogen Storage Disease

The purpose of the Association for Glycogen Storage Disease shall be to protect and promote the best interests of all persons and families affected by Glycogen Storage Disease [GSD]; to promote the establishment, improvement, and management of facilities for the treatment, study, education, shelter, recreation, recuperation and other general benefit to GSD-affected persons; to act as a vehicle of communication on GSD-related matters to patients, families, professionals, and the public; and to act as a focus for scientific, educational, and charitable activities related to the disease.

Last Updated: 30 Apr 2014

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Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

Last Updated: 12 May 2015

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LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

Last Updated: 22 May 2015

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 15 Jul 2015

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United Pompe Foundation

The United Pompe Foundation was formed to assist patients and/or their families with medical costs and other expenses that these patients and families face and may not be able to cover, or fully cover, through their insurance. Another very important issue we all face is raising the public awareness of Pompe disease. As we are all aware there is very little public awareness of this devastating disease. The committee is comprised of Pompe patients and parents of Pompe patients so that we have a good understanding of the many problems those families must deal with on a daily basis. We hope to be a valuable resource that patients can turn to if they need help. If you have any questions, comments, or would like to help please contact us.

Last Updated: 12 Dec 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pompe disease" for support, advocacy or research.

Acid Maltase Deficiency Association

The Acid Maltase Deficiency Association, was formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, also known as Pompe Disease.

http://www.amda-pompe.org

Last Updated: 9 Nov 2012

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Association for Glycogen Storage Disease

The purpose of the Association for Glycogen Storage Disease shall be to protect and promote the best interests of all persons and families affected by Glycogen Storage Disease [GSD]; to promote the establishment, improvement, and management of facilities for the treatment, study, education, shelter, recreation, recuperation and other general benefit to GSD-affected persons; to act as a vehicle of communication on GSD-related matters to patients, families, professionals, and the public; and to act as a focus for scientific, educational, and charitable activities related to the disease.

http://www.agsdus.org

Last Updated: 30 Apr 2014

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Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

http://cfgd.cochrane.org

Last Updated: 12 May 2015

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LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

https://www.lgmd-diagnosis.org

Last Updated: 22 May 2015

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 15 Jul 2015

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United Pompe Foundation

The United Pompe Foundation was formed to assist patients and/or their families with medical costs and other expenses that these patients and families face and may not be able to cover, or fully cover, through their insurance. Another very important issue we all face is raising the public awareness of Pompe disease. As we are all aware there is very little public awareness of this devastating disease. The committee is comprised of Pompe patients and parents of Pompe patients so that we have a good understanding of the many problems those families must deal with on a daily basis. We hope to be a valuable resource that patients can turn to if they need help. If you have any questions, comments, or would like to help please contact us.

http://www.unitedpompe.com

Last Updated: 12 Dec 2012

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General Support Organizations

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General Resources

Updated 9 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pompe disease" returned 145 free, full-text research articles on human participants. First 3 results:

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.
 

Author(s): Gerben J Schaaf, Tom J M van Gestel, Esther Brusse, Robert M Verdijk, Irenaeus F M de Coo, Pieter A van Doorn, Ans T van der Ploeg, W W M Pim Pijnappel

Journal:

 

Muscle stem cells termed satellite cells are essential for muscle regeneration. A central question in many neuromuscular disorders is why satellite cells are unable to prevent progressive muscle wasting. We have analyzed muscle fiber pathology and the satellite cell response in Pompe ...

Last Updated: 29 Oct 2015

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[Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy].
 

Author(s): Myriam Ley-Martos, María J Salado-Reyes, Raúl Espinosa-Rosso, Jesús Solera-García, Luis Jiménez-Jiménez

Journal: Rev Neurol. 2015 Nov;61(9):416-20.

 

Pompe disease is a generalized progressive disease caused by a deficiency of the lysosome enzyme acid alpha-glucosidase (GAA). We present three cases with different clinical symptomatology and treated with enzyme replacement therapy (ERT) with positive evolution.

Last Updated: 27 Oct 2015

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Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.
 

Author(s): , Fatma Al Jasmi, Mohammed Al Jumah, Fatimah Alqarni, Nouriya Al-Sanna'a, Fawziah Al-Sharif, Saeed Bohlega, Edward J Cupler, Waseem Fathalla, Mohamed A Hamdan, Nawal Makhseed, Shahriar Nafissi, Yalda Nilipour, Laila Selim, Nuri Shembesh, Rawda Sunbul, Seyed Hassan Tonekaboni

Journal:

 

Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms.

Last Updated: 16 Oct 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pompe disease" returned 15 free, full-text review articles on human participants. First 3 results:

Pompe disease: literature review and case series.
 

Author(s): Majed Dasouki, Omar Jawdat, Osama Almadhoun, Mamatha Pasnoor, April L McVey, Ahmad Abuzinadah, Laura Herbelin, Richard J Barohn, Mazen M Dimachkie

Journal: Neurol Clin. 2014 Aug;32(3):751-76, ix.

 

Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in the acidic alpha glucosidase (GAA) gene. Significant progress had been made in the diagnosis and management of patients with Pompe disease. Here, we describe our experience with 12 ...

Last Updated: 19 Jul 2014

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The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?
 

Author(s): Robin Lachmann, Benedikt Schoser

Journal:

 

Pompe disease/glycogen storage disease type II, is a rare, lysosomal storage disorder associated with progressive proximal myopathy, causing a gradual loss of muscular function and respiratory insufficiency. Studies of patients with late-onset Pompe disease have used endpoints such ...

Last Updated: 15 Nov 2013

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The respiratory neuromuscular system in Pompe disease.
 

Author(s): David D Fuller, Mai K ElMallah, Barbara K Smith, Manuela Corti, Lee Ann Lawson, Darin J Falk, Barry J Byrne

Journal: Respir Physiol Neurobiol. 2013 Nov;189(2):241-9.

 

Pompe disease is due to mutations in the gene encoding the lysosomal enzyme acid α-glucosidase (GAA). Absence of functional GAA typically results in cardiorespiratory failure in the first year; reduced GAA activity is associated with progressive respiratory failure later in life. ...

Last Updated: 28 Oct 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pompe Disease Registry
 

Status: Recruiting

Condition Summary: Glycogen Storage Disease Type II; Pompe Disease

 

Last Updated: 29 Apr 2016

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Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
 

Status: Recruiting

Condition Summary: Pompe Disease

 

Last Updated: 18 Aug 2016

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Diet and Exercise in Pompe Disease
 

Status: Not yet recruiting

Condition Summary: Pompe Disease; Glycogen Storage Disease Type II; Lysosomal Storage Diseases

 

Last Updated: 14 Apr 2016

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