Galactosemia
Alternate 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
Prognosis (Expectations)
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
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