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Alternative Names Return to topGalactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency
Definition Return to top
Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.
Causes Return to top
Galactosemia is an inherited disorder. This means it is passed down through families.
It occurs in approximately 1 out of every 60,000 births among Caucasians. The rate is different for other groups.
There are three forms of the disease:
People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. The other sugar is glucose.
If an infant with galactosemia is given milk, substances made from galactose build up in the infant's system. These substances damage the liver, brain, kidneys, and eyes.
Persons with galactosemia cannot tolerate any form of milk (human or animal). They must be careful about eating other foods containing galactose.
Symptoms Return to top
Infants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. coli.
Exams and Tests Return to top
Newborn screening in many states will test for this condition.
Treatment Return to top
People with this condition must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer.
Infants can be fed with:
Calcium supplements are recommended.
Support Groups Return to top
Parents of Galactosemic Children, Inc.
Outlook (Prognosis) Return to top
People who get an early diagnosis and strictly avoid milk products can live a relatively normal life. However, mild intellectual impairment may develop, even in people who avoid galactose.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call your health care provider if:
Prevention Return to top
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 Return to top
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.Update Date: 4/15/2009 Updated 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.