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Galactosemia - Treatment

Alternative Names

Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency

Treatment:

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:

  • Soy formula
  • Meat-based formula or Nutramigen (a protein hydrolysate formula)
  • Another lactose-free formula

Calcium supplements are recommended.

Support Groups:

Parents of Galactosemic Children, Inc.

www.galactosemia.org

Expectations (prognosis):

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.

Complications:

  • Cataracts
  • Cirrhosis of the liver
  • Death (if there is galactose in the diet)
  • Delayed speech development
  • Irregular menstrual periods, reduced function of ovaries leading to ovarian failure
  • Mental retardation
  • Severe infection with bacteria (E. coli sepsis)
  • Tremors and uncontrollable motor functions

Calling your health care provider:

Call your health care provider if:

  • Your infant has a combination of galactosemia symptoms
  • You have a family history of galactosemia and are considering having children
  • Reviewed last on: 4/15/2009
  • 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.

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.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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