Galactosemia

  • 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