Galactosemia
Alternative Names
Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiencyTreatment
Once the disease is recognized, treatment consists of strictly avoiding all milk, milk-containing products, and other foods that contain galactose. 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, milk products, and galactose-containing foods 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.
Outlook (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.
Possible 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
When to Contact a Medical Professional
- If your infant shows a combination of galactosemia symptoms
- If you have a family history of galactosemia and are considering having children.
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