Diseases & Conditions
Pompe Disease
Synonyms of Pompe Disease
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
For a Complete Report
- 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
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