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Ency. home > Disease > G > Galactosemia

Galactosemia   

Overview | Symptoms | Treatment | Prevention

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.

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.

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
  • Death, if diet is not adhered to

Call Your Health Care Provider If:

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

Ency. home > Disease > G > Galactosemia

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