Pompe Disease
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Important
It is possible that the main title of the report Pompe Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Summary
Pompe disease is a rare multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). This enzyme is required to breakdown (metabolize) the complex carbohydrate glycogen and convert it into the simple sugar glucose. Glycogen is a thick, sticky substance and failure to properly break it down results in massive accumulation of lysosomal glycogen in cells, particularly in cardiac, smooth, and skeletal muscle cells. Pompe disease is a single disease continuum with variable rates of disease progression and different ages of onset. The infantile form is characterized by severe muscle weakness and abnormally diminished muscle tone (hypotonia) without muscle wasting, and usually manifests within the first few months of life. Additional abnormalities may include enlargement of the heart (cardiomegaly), the liver (hepatomegaly), and/or the tongue (macroglossia). Without treatment, progressive cardiac failure usually causes life-threatening complications by the age of 12 to 18 months. Pompe disease can also present in childhood, adolescence or adulthood, collectively known as late-onset Pompe disease. The extent of organ involvement may vary among affected individuals; however, skeletal muscle weakness is usually present with minimal cardiac involvement. Initial symptoms of late-onset Pompe disease may be subtle and may go unrecognized for years. Pompe disease is caused by mutations of the GAA gene and is inherited as an autosomal recessive trait.
Introduction
Pompe disease belongs to a group of diseases known as the lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that function as the primary digestive units of cells. Enzymes within the lysosomes break down or digest particular nutrients, such as complex molecules composed of a sugar attached to a protein (glycoproteins). There are more than 40 different lysosomal enzymes. Low levels or inactivity of the GAA lysosomal enzyme leads to the accumulation of glycogen in the lysosomes of various cells within the body with unwanted consequences. Pompe disease may also be classified as a glycogen storage disease, a group of metabolic disorders characterized by abnormalities involving the use and/or storage of glycogen.
CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Internet: http://www.CLIMB.org.uk
Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
USA
Tel: (563)514-4022
Fax: (563)514-4022
Email: info@agsdus.org
Internet: http://www.agsdus.org
Vaincre Les Maladies Lysosomales
2 Ter Avenue
Massy, 91300
France
Tel: 0169754030
Fax: 0160111583
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
USA
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Internet: http://www.mda.org/
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/
Acid Maltase Deficiency Association, Inc.
P.O. Box 700248
San Antonio, TX 78270-0248
Tel: (210)494-6144
Fax: (210)490-7161
Email: tiffanylhouse@aol.com
Internet: http://www.amda-pompe.org
Association for Glycogen Storage Disease (UK) Ltd
Old Hambledon Racecourse
Sheardley Lane, Droxford
Hampshire, SO32 3QY
United Kingdom
Tel: 03001232790
Email: info@agsd.org.uk
Internet: http://www.agsd.org.uk
Children's Cardiomyopathy Foundation
PO Box 547
Tenafly, NJ 07670
USA
Tel: (866)808-2873
Fax: (201)227-7016
Email: info@childrenscardiomyopathy.org
Internet: http://www.childrenscardiomyopathy.org
Belgian Association for Metabolic Diseases
Alice Nahonlann 7
Melsele, 9120
Belgium
Tel: 0498701503
Fax: 037754839
Email: info@boks.be
Internet: http://www.boks.be/site/index.php/
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/
Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
Bogota,
Colombia
Tel: 5713208320
Email: abarrera@javeriana.edu.co
Internet: http://www.javeriana.edu.co/ieim/programas_ieim.htm
United Pompe Foundation
5100 N. Sixth Street #119
Fresno, CA 93710
Tel: (559)227-1898
Fax: (559)227-1898
Email: david@unitedpompe.com
Internet: http://www.unitedpompe.com
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Tel: (877)621-1122
Fax: (866)215-8850
Email: info@hideandseek.org
Internet: http://www.hideandseek.org
Proyecto Pide un Deseo México, i.a.p.
Altadena #59-501 col. Napoles
delegacion Benito Juarez
03810 Mexico D.F.
Tel: 55 5543-2447
Fax: 55-5543-5450
Email: prayecto.pdeundese.mexico@gmail.com
Internet: http://www.pideundeseo.org
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 4/1/2013
Copyright 1987, 1990, 1991, 1996, 1997, 1998, 1999, 2001, 2002, 2003, 2004, 2005, 2006, 2007, 2013 National Organization for Rare Disorders, Inc.
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Pompe Disease
Important
It is possible that the main title of the report Pompe Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
- acid maltase deficiency (AMD)
- acid alpha glucosidase (GAA) deficiency
- glycogen storage disease type II
Disorder Subdivisions
- infantile onset Pompe disease
- late onset Pompe disease
General Discussion
Summary
Pompe disease is a rare multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). This enzyme is required to breakdown (metabolize) the complex carbohydrate glycogen and convert it into the simple sugar glucose. Glycogen is a thick, sticky substance and failure to properly break it down results in massive accumulation of lysosomal glycogen in cells, particularly in cardiac, smooth, and skeletal muscle cells. Pompe disease is a single disease continuum with variable rates of disease progression and different ages of onset. The infantile form is characterized by severe muscle weakness and abnormally diminished muscle tone (hypotonia) without muscle wasting, and usually manifests within the first few months of life. Additional abnormalities may include enlargement of the heart (cardiomegaly), the liver (hepatomegaly), and/or the tongue (macroglossia). Without treatment, progressive cardiac failure usually causes life-threatening complications by the age of 12 to 18 months. Pompe disease can also present in childhood, adolescence or adulthood, collectively known as late-onset Pompe disease. The extent of organ involvement may vary among affected individuals; however, skeletal muscle weakness is usually present with minimal cardiac involvement. Initial symptoms of late-onset Pompe disease may be subtle and may go unrecognized for years. Pompe disease is caused by mutations of the GAA gene and is inherited as an autosomal recessive trait.
Introduction
Pompe disease belongs to a group of diseases known as the lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that function as the primary digestive units of cells. Enzymes within the lysosomes break down or digest particular nutrients, such as complex molecules composed of a sugar attached to a protein (glycoproteins). There are more than 40 different lysosomal enzymes. Low levels or inactivity of the GAA lysosomal enzyme leads to the accumulation of glycogen in the lysosomes of various cells within the body with unwanted consequences. Pompe disease may also be classified as a glycogen storage disease, a group of metabolic disorders characterized by abnormalities involving the use and/or storage of glycogen.
Resources
CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Internet: http://www.CLIMB.org.uk
Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
USA
Tel: (563)514-4022
Fax: (563)514-4022
Email: info@agsdus.org
Internet: http://www.agsdus.org
Vaincre Les Maladies Lysosomales
2 Ter Avenue
Massy, 91300
France
Tel: 0169754030
Fax: 0160111583
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
USA
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Internet: http://www.mda.org/
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/
Acid Maltase Deficiency Association, Inc.
P.O. Box 700248
San Antonio, TX 78270-0248
Tel: (210)494-6144
Fax: (210)490-7161
Email: tiffanylhouse@aol.com
Internet: http://www.amda-pompe.org
Association for Glycogen Storage Disease (UK) Ltd
Old Hambledon Racecourse
Sheardley Lane, Droxford
Hampshire, SO32 3QY
United Kingdom
Tel: 03001232790
Email: info@agsd.org.uk
Internet: http://www.agsd.org.uk
Children's Cardiomyopathy Foundation
PO Box 547
Tenafly, NJ 07670
USA
Tel: (866)808-2873
Fax: (201)227-7016
Email: info@childrenscardiomyopathy.org
Internet: http://www.childrenscardiomyopathy.org
Belgian Association for Metabolic Diseases
Alice Nahonlann 7
Melsele, 9120
Belgium
Tel: 0498701503
Fax: 037754839
Email: info@boks.be
Internet: http://www.boks.be/site/index.php/
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/
Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
Bogota,
Colombia
Tel: 5713208320
Email: abarrera@javeriana.edu.co
Internet: http://www.javeriana.edu.co/ieim/programas_ieim.htm
United Pompe Foundation
5100 N. Sixth Street #119
Fresno, CA 93710
Tel: (559)227-1898
Fax: (559)227-1898
Email: david@unitedpompe.com
Internet: http://www.unitedpompe.com
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Tel: (877)621-1122
Fax: (866)215-8850
Email: info@hideandseek.org
Internet: http://www.hideandseek.org
Proyecto Pide un Deseo México, i.a.p.
Altadena #59-501 col. Napoles
delegacion Benito Juarez
03810 Mexico D.F.
Tel: 55 5543-2447
Fax: 55-5543-5450
Email: prayecto.pdeundese.mexico@gmail.com
Internet: http://www.pideundeseo.org
For a Complete Report:
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 4/1/2013
Copyright 1987, 1990, 1991, 1996, 1997, 1998, 1999, 2001, 2002, 2003, 2004, 2005, 2006, 2007, 2013 National Organization for Rare Disorders, Inc.