Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency
Prevention
It is helpful to know your family history. If you have a family history of galactosemia and want to have children, genetic counseling will help you make decisions about pregnancy and prenatal testing. Once the diagnosis of galactosemia is made, genetic counseling is recommended for other members of the family.
Many states screen all newborns for galactosemia. If parents learn that the test indicates possible galactosemia, they should promptly stop giving their infant milk products and ask their health care provider about having a blood test done for galactosemia.
References
Berry GT, Segal S, Gitzelmann R. Disorders of Galactose Metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer;2006:chap 7.
Images
Previous Section
Review Date: 04/15/2009
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's
Hospital of Philadelphia, Philadelphia, PA. Review provided by
VeriMed Healthcare Network (3/13/2006). Also reviewed by David
Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)
