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Pompe Disease

National Organization for Rare Disorders, Inc.

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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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

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