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.
Glycogen Storage Disease IV
Glycogenosis Type IV
Branching Enzyme Deficiency
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.
Children Living with Inherited Metabolic Diseases (CLIMB) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: 0845 241 2174 Tel: 800 652 3181 Email: firstname.lastname@example.org 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)785-6038 Email: email@example.com 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) 9 Lindop Road Hale Altricham Cheshire, WA159DZ United Kingdom Tel: 1619807303 Fax: 1612263813 Email: firstname.lastname@example.org 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 R.901 New York, NY 10018 Tel: (212)290-2546 Fax: (212)643-0963 Email: info@APBDRF.org Internet: http://www.apbdrf.org
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Last Updated: 9/17/2007 Copyright 1987, 1990, 1991, 2001, 2003 National Organization for Rare Disorders, Inc.
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