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.
- acid maltase deficiency (AMD)
- acid alpha glucosidase (GAA) deficiency
- glycogen storage disease type II
- infantile onset Pompe disease
- late onset Pompe disease
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.
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)
176 Nantwich Road
Crewe, CW2 6BG
Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
Vaincre Les Maladies Lysosomales
2 Ter Avenue
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
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
Acid Maltase Deficiency Association, Inc.
P.O. Box 700248
San Antonio, TX 78270-0248
Association for Glycogen Storage Disease (UK) Ltd
Old Hambledon Racecourse
Sheardley Lane, Droxford
Hampshire, SO32 3QY
Children's Cardiomyopathy Foundation
PO Box 547
Tenafly, NJ 07670
Belgian Association for Metabolic Diseases
Alice Nahonlann 7
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
United Pompe Foundation
5100 N. Sixth Street #119
Fresno, CA 93710
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Proyecto Pide un Deseo México, i.a.p.
Altadena #59-501 col. Napoles
delegacion Benito Juarez
03810 Mexico D.F.
Tel: 55 5543-2447
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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
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Last Updated: 4/1/2013
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