Galacktokinase Deficiency Health Article

Prognosis

Abundant experience with early treatment supports the concept that effective treatment instituted in the initial weeks of life can prevent all symptoms of the disease. In the rare event that some degree of mild retardation results, it is likely irreversible. Cataracts appear to be reversible if treatment is started within the initial three months of life.

BOOKS

Chen, Y. "Defects in Metabolism of Carbohydrates." In Nelson Textbook of Pediatrics, edited by R.E. Behrman. Philadelphia: W.B. Saunders, 2000, pp. 413-414.

Isselbacher, K. J. "Galactosemia, Galactokinase Deficiency, and Other Rare Disorders of Carbohydrate Metabolism." In Harrison's Principles of Internal Medicine, edited by A. S. Fauci. New York: McGraw-Hill, 1998, pp.2131-2132.

Naviaux, R. K. "Galactosemia." In Cecil Textbook of Medicine, edited by R. E. Behrman, Philadelphia: W.B. Saunders, 2000, pp, 413-414.

Nyhan, W.E. "Galactosemia." In Atlas of Metabolic Disease. London: Chapman & Hall, 1998, pp. 322-329.

ORGANIZATIONS

National Newborn Screening and Genetics Resource Center. 1912 W. Anderson Lane, Suite 210, Austin, TX 78757. Fax: (512) 454-6419. <http://www.genes-rus.uthscsa.edu>.

Parents of Galactosemic Children, Inc. 1100 West 49th St., Austin, TX 78756-3199. (512) 458-7111. <http://www.tdh.state.tx.us/newborn/galac_1.htm>.

OTHER

Roberts, R. and Meyer, B. Living with Galactosemia: A Handbook for Families. 1993. University School of Medicine Department of Pediatrics, 702 Barnhill Dr., Indianapolis, Indiana 46202-5225.

Oren Traub, MD, PhD