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Copyright 1987, 1990, 1991, 2001, 2003, 2007
NORD is grateful to Deborah Marsden, Chief of Endocrinology and Metabolism at Children’s Hospital of Boston, for assistance in the preparation of this report.
Synonyms of Andersen Disease (GSD IV)
- Amylopectinosis
- Andersen Glycogenosis
- Brancher Deficiency
- Branching Enzyme Deficiency
- Glycogenosis Type IV
- Glycogen Storage Disease IV
Disorder Subdivisions
General Discussion
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.
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Organizations related to Andersen Disease (GSD IV)
- APBD Research Foundation
8 West 37th Street
R.901
New York NY 10018
Phone #: 212-643-1221
800 #: N/A
e-mail: info@APBDRF.org
Home page: http://www.apbdrf.org
- Association for Glycogen Storage Disease
P.O. Box 896
Durant IA 52747
Phone #: 563-514-4022
800 #: --
e-mail: maryc@agsdus.org
Home page: http://www.agsdus.org
- Association for Glycogen Storage Disease (UK)
9 Lindop Road
Hale
Altricham
Cheshire None WA159DZ
Phone #: 161-980-7303
800 #: --
e-mail: president@agsd.org.uk
Home page: http://www.agsd.org.uk
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: 084-5 2-41 2174
800 #: 080-0 6-52 3181
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: --
e-mail: NDDIC@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
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