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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.

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