Galactosemia

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Galactosemia

Overview

Symptoms

Treatment

Prevention

Galactosemia

Alternative Names:

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

Treatment:

Once the disease is recognized, treatment consists of strictly avoiding all milk and milk-containing products. The infant can be fed with soy formula, meat-base formula, or Nutramigen (a protein hydrolysate formula), or other lactose-free formula.

The condition is lifelong and requires abstinence from milk and milk products for life. Calcium supplements are recommended.

Parents need to take care and educate the child to avoid not only milk and milk products, but also those foods that contain dry milk products. For this reason, it is essential to read product labels and be an informed consumer.

Support Groups:

Parents of Galactosemic Children, Inc.

www.galactosemia.org

775-626-5811

Expectations (prognosis):

If diagnosis is made early and milk products are strictly avoided, the prognosis is for a relatively normal life. Despite strict avoidance of galactose, mild intellectual impairment may still develop.

Complications:

Cataracts
Cirrhosis
Severe infection with bacteria (E. coli sepsis)
Delayed speech development
Severe mental retardation
Irregular menstrual cycles, decreased function of ovaries, leading to ovarian failure
Tremors and uncontrollable motor functions
Death, if diet is not adhered to

Calling your health care provider:

If your infant shows a combination of galactosemia symptoms
If you have a family history of galactosemia and are considering having children.

Review Date: 3/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network.

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