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Glycogen Storage Disease Type II
Definition: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)

Synonym(s): Acid Maltase Deficiency Disease / Generalized Glycogenosis / Glycogenosis 2 / Lysosomal alpha-1,4-Glucosidase Deficiency Disease / Pompe Disease / Adult Glycogen Storage Disease Type II / Deficiency Disease, Acid Maltase / Deficiency Disease, Lysosomal alpha-1,4-Glucosidase / Glycogen Storage Disease Type II, Adult / Glycogen Storage Disease Type II, Infantile / Glycogen Storage Disease Type II, Juvenile / Glycogenosis Type II / Infantile Glycogen Storage Disease Type II / Juvenile Glycogen Storage Disease Type II / Pompe's Disease / Glycogenosis Type IIs / Glycogenosis, Generalized / IIs, Glycogenosis Type / Lysosomal alpha 1,4 Glucosidase Deficiency Disease / Pompes Disease / Type II, Glycogenosis / Type IIs, Glycogenosis
See also:
Glucan 1,4-alpha-Glucosidase  alpha-Glucosidases   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Pompe disease?
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.
One type of Pompe disease, known as infantile onset, begins within a few months of birth. Infants with this disorder typically exhibit symptoms such as muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver and heart, and heart failure. Affected infants may also have poor feeding, failure to gain weight and grow at the ...

How common is Pompe disease?
Pompe disease affects about 1 in 40,000 people.


More information from the Genetics Home Reference Website
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  Web resources for "Glycogen Storage Disease Type II"
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view the robot description of the site Référentiel AccessiWeb CMS 1.0 - Table de correspondance du Référentiel AccessiWeb CMS 1.0 [Général] vers ATAG 1.0www.braillenet.org  
view the HON description of the site HONcode - Pompe disease - Genetics Home Referenceghr.nlm.nih.gov 2
view the robot description of the site Pompe Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 2
view the HON description of the site HONcode - Pompe - Amicus Q&Awww.pompe.org.uk 3
view the HON description of the site HONcode - Type II: Pompewww.agsdus.org  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
view the HON description of the site HONcode - Genzyme's Lumizyme BLA Receives Six-Month FDA Reviewwww.drugs.com  
view the HON description of the site HONcode - Arthritis, Musculoskeletal and Skin Diseases Home Pagewww.drclic.com  
view the robot description of the site AMDA - Acid Maltase Deficiency Associationwww.amda-pompe.org  
view the robot description of the site AGSD | Association for Glycogen Storage Disease (UK) www.agsd.org.uk  
view the robot description of the site Metabolic Diseases of Muscle | MDAwww.mdausa.org  
view the robot description of the site Lysosomal Storage Program - Clinical Programs - Boston Children's Hospitalwww.childrenshospital.org  
 
 

See also: - Glucan 1,4-alpha-Glucosidase - alpha-Glucosidases

Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Glycogen Storage Disease - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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  Medical image(s) for "Glycogen Storage Disease Type II"
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Broader term(s): - Brain Diseases, Metabolic - Brain Diseases - Nervous System Diseases
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  Medical News for "Glycogen Storage Disease Type II"
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Broader term(s): - Nervous System Diseases

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  Scientific articles from MEDLINE for "Glycogen Storage Disease Type II"
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Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Glycogen Storage Disease - Metabolism, Inborn Errors - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Lysosomal Storage Diseases
                          Lysosomal Storage Diseases, Nervous System 
                      Carbohydrate Metabolism, Inborn Errors
                          Glycogen Storage Disease 
                      Brain Diseases, Metabolic, Inborn
                          Lysosomal Storage Diseases, Nervous System 
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Brain Diseases, Metabolic
                      Brain Diseases, Metabolic, Inborn
                          Lysosomal Storage Diseases, Nervous System 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors
                      Lysosomal Storage Diseases
                          Lysosomal Storage Diseases, Nervous System 
                      Carbohydrate Metabolism, Inborn Errors
                          Glycogen Storage Disease 
                      Brain Diseases, Metabolic, Inborn
                          Lysosomal Storage Diseases, Nervous System 
      Diseases
          Nervous System Diseases
              Central Nervous System Diseases
                  Brain Diseases
                      Brain Diseases, Metabolic
                          Brain Diseases, Metabolic, Inborn
                              Lysosomal Storage Diseases, Nervous System 

MeSH 2010 © U.S. National Library of Medicine®.

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