Diseases & Conditions


Pompe Disease

Synonyms of Pompe Disease
  • Acid Maltase Deficiency
  • Alpha-1,4 Glucosidase Deficiency
  • Cardiomegalia Glycogenica Diffusa
  • Generalized Glycogenosis
  • Glycogenosis Type II
  • Lysosomal Glucosidase Deficiency

Disorder Subdivisions

  • Glycogen Storage Disease Type II

General Discussion
Pompe disease is a glycogen storage disease. This rare inherited metabolic disorder is 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. The symptoms and physical findings of Pompe disease result from the abnormal accumulation of glycogen in the cells. Pompe disease is a single disease continuum with variable rates of disease progression. 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). Progressive cardiac failure usually causes life-threatening complications by the age of 12 to 18 months. The childhood form usually begins during late infancy or early childhood. The extent of organ involvement may vary among affected individuals; however, skeletal muscle weakness is usually present with minimal cardiac involvement. In the adult form of Pompe disease, symptoms include muscle weakness such as that found in other chronic muscle disorders. Onset of symptoms usually occurs in the second to fourth decade. This form of the disorder is slowly progressive without cardiac involvement. The U.S. Food and Drug Administration (FDA) has approved the enzyme replacement therapy Myozyme as a treatment for all patients with Pompe disease (April 2006).

Organizations related to Pompe Disease
  • Acid Maltase Deficiency Association, Inc.
    P.O. Box 700248
    San Antonio TX 78270-0248
    Phone #: 210-494-6144
    800 #: --
    e-mail: [email protected]
    Home page: http://www.amda-pompe.org
  • Association for Glycogen Storage Disease
    P.O. Box 896
    Durant IA 52747
    Phone #: 563-785-6038
    800 #: --
    e-mail: [email protected]
    Home page: http://www.agsdus.org
  • Association for Glycogen Storage Disease (UK)
    9 Lindop Road
    Cheshire None WA159DZ
    Phone #: 161-980-7303
    800 #: --
    e-mail: [email protected]
    Home page: http://www.agsd.org.uk
  • Belgian Association for Metabolic Diseases (BOKS)
    Alice Nahonlann 7
    Melsele None 9120
    Phone #: 323-775-4839
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.boks.be
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: [email protected]
    Home page: http://www.CLIMB.org.uk
  • Children's Cardiomyopathy Foundation (CCF)
    PO Box 547
    Tenafly NJ 07670
    Phone #: 866-808-2873
    800 #: --
    e-mail: [email protected]
    Home page: http://www.childrenscardiomyopathy.org
  • Hide & Seek Foundation for Lysosomal Disease Research
    4123 Lankershim Blvd.
    North Hollywood CA 91602-2828
    Phone #: 818-762-8621
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.hideandseek.org
  • Instituto de Errores Innatos del Metabolismo
    Carrera 7 No 43-82
    S.A. Edificio 53 Lab. 305A None None
    Phone #: 50 -1 3-208320
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.javeriana.edu.co
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.madisonsfoundation.org
  • Muscular Dystrophy Association
    3300 E. Sunrise Dr
    Tucson AZ 85718
    Phone #: 520-529-2000
    800 #: 800-344-4863
    e-mail: [email protected]
    Home page: http://www.mdausa.org
  • NIH/National Institute of Diabetes, Digestive & Kidney Diseases
    Endocrine Diseases Metabolic Diseases Branch
    Bethesda MD 20892-3570
    Phone #: 301-654-3810
    800 #: --
    e-mail: [email protected]
    Home page: http://www.niddk.nih.gov
  • United Pompe Foundation
    5100 N 6th St., Suite 149
    Fresno CA 93710
    Phone #: 559-227-1898
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.unitedpompe.com
  • Vaincre Les Maladies Lysosomales
    2 ter avenue de Fance
    Massy None 91300
    Phone #: 01 -69 -75 40 30
    800 #: --
    e-mail: [email protected]
    Home page: http://www.vml-asso.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html