Glycogen storage diseases

Encyclopedia of Medicine, Apr 06, 2001 by Julia Barrett

Because GSD is an inherited condition, it is not preventable. If both parents carry the defective gene, there is a one-in-four chance that their offspring will inherit the disorder. Other children may be carriers or they may miss inheriting the gene altogether.

Through chorionic villi sampling and amniocentesis, the disorder can be detected prior to birth. Some types of GSD can be detected even before conception occurs, if both parents are tested for the presence of the defective gene. Before undergoing such testing, the prospective parents should meet with a genetic counselor and other professionals in order to make an informed decision.

• Books
• Chen, Yuan-Tsong, and Ann Burchell. "Glycogen Storage Diseases." In The Metabolic and Molecular Bases of Inherited Disease, 7th Edition, edited by Charles R. Scriver, et al. New York: McGraw-Hill, Health Professions Division, 1995. Periodicals
• Goldberg, Teresia, and Alfred Slonim. "Nutrition Therapy for Hepatic Glycogen Storage Diseases." Journal of the American Dietetic Association 93 (12)(December 1993): 1423.
• Talente, Gregg M., Rosalind A. Coleman, Craig Alter, et al. "Glycogen Storage Disease in Adults." Annals of Internal Medicine 120 (1994): 218.
• Triomphe, Teeny J. "Glycogen Storage Disease: A Basic Understanding and Guide to Nursing Care." Journal of Pediatric Nursing 12 (4)(August 1997): 238. Organizations
• Acid Maltase Deficiency Association. P.O. Box 700248, San Antonio, TX 78270-0248. (210) 494-6144 or (210) 490-7161. http://members.aol.com/amdapage/index.htm.
• American Liver Foundation. 1425 Pompton Avenue, Cedar Grove, NJ 07009. (800) GO LIVER (465-4837). http://www.liverfoundation.org/.
• Association for Glycogen Storage Disease. P.O. Box 896, Durant, Iowa 52747-9769. (319) 785-6038.