Andersen Disease (GSD IV)
Important
It is possible that the main title of the report Andersen Disease (GSD IV) 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.
Summary
Andersen disease belongs to a group of rare genetic disorders of glycogen metabolism, known as glycogen storage diseases. Glycogen is a complex carbohydrate that is converted into the simple sugar glucose for the body's use as energy. Glycogen storage diseases are characterized by deficiencies of certain enzymes involved in the metabolism of glycogen, leading to an accumulation of abnormal forms or amounts of glycogen in various parts of the body, particularly the liver and muscle.
Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues. In most affected individuals, symptoms and findings become evident in the first months of life. Such features typically include failure to grow and gain weight at the expected rate (failure to thrive) and abnormal enlargement of the liver and spleen (hepatosplenomegaly). In such cases, the disease course is typically characterized by progressive liver (hepatic) scarring (cirrhosis) and liver failure, leading to potentially life-threatening complications. In rare cases, however, progressive liver disease may not develop. In addition, several neuromuscular variants of Andersen disease have been described that may be evident at birth, in late childhood, or adulthood. The disease is inherited as an autosomal recessive trait.
Introduction
Andersen disease is named for the investigator (DH Andersen) who initially described the disease in 1956.
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
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/
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
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/
Adult Polyglucosan Body Disease Research Foundation
8 West 37th Street, Suite 901
New York, NY 10018
Tel: (646)580-5610
Fax: (212)643-0963
Email: info@APBDRF.org
Internet: http://www.apbdrf.org
It is possible that the main title of the report Andersen Disease (GSD IV) 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
- amylopectinosis
- Andersen glycogenosis
- brancher deficiency
- branching enzyme deficiency
- glycogenosis type IV
- glycogen storage disease IV
Disorder Subdivisions
- None
General Discussion
Summary
Andersen disease belongs to a group of rare genetic disorders of glycogen metabolism, known as glycogen storage diseases. Glycogen is a complex carbohydrate that is converted into the simple sugar glucose for the body's use as energy. Glycogen storage diseases are characterized by deficiencies of certain enzymes involved in the metabolism of glycogen, leading to an accumulation of abnormal forms or amounts of glycogen in various parts of the body, particularly the liver and muscle.
Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues. In most affected individuals, symptoms and findings become evident in the first months of life. Such features typically include failure to grow and gain weight at the expected rate (failure to thrive) and abnormal enlargement of the liver and spleen (hepatosplenomegaly). In such cases, the disease course is typically characterized by progressive liver (hepatic) scarring (cirrhosis) and liver failure, leading to potentially life-threatening complications. In rare cases, however, progressive liver disease may not develop. In addition, several neuromuscular variants of Andersen disease have been described that may be evident at birth, in late childhood, or adulthood. The disease is inherited as an autosomal recessive trait.
Introduction
Andersen disease is named for the investigator (DH Andersen) who initially described the disease in 1956.
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
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/
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
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/
Adult Polyglucosan Body Disease Research Foundation
8 West 37th Street, Suite 901
New York, NY 10018
Tel: (646)580-5610
Fax: (212)643-0963
Email: info@APBDRF.org
Internet: http://www.apbdrf.org
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