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California Newborn Screening Program

Galactosemia

What is galactosemia?

Galactosemia is an inherited metabolic disorder that occurs when both parents pass a gene for galactosemia to their child. This disorder affects the metabolism of a sugar called galactose which is a component of lactose (a milk sugar) which is naturally present in milk and all dairy products.

A person with galactosemia does not have one of the enzymes that changes the sugar galactose into a sugar called glucose. Enzymes are necessary because they break down other substances in the body which are important. Galactosemia is caused by a deficiency in the enzyme called transferase, one of many enzymes that change galactose into glucose.  If there is not enough transferase in the body, galactose builds up in the body.

What are the symptoms?

When there is too much galactose in the body, it can cause serious problems to the red blood cells, eyes, brain, liver, kidneys, and reproductive system. These problems result in mental retardation, cataracts, jaundice (yellowish appearance to the skin), liver damage, kidney damage, and ovarian failure in women.

In the milder forms of galactosemia known as galactosemia variants, there is some transferase enzyme to help change galactose into glucose. One common variant is Duarte galactosemia (D/G).  Children with D/G have some of the enzyme and a few may have a milder form of the condition.

What is the treatment?

Typically, galactosemia is treated with a special diet that does not contain galactose or lactose.  Breastmilk and baby formulas such as Similac®, SMA®, and Enfamil® cannot be given to babies with galactosemia because they contain galactose and/or lactose. Other dairy foods such as cheese, ice cream, butter, yogurt, etc. cannot be eaten either if a person has galactosemia.  Babies with galactosemia can have soy-based formulas such as Isomil®, Prosobee®, I-Soylac® or Nursoy®.  These formulas do not contain lactose and/or galactose.  You should always consult your baby's doctor regarding any treatment recommended.

How Can I Tell What Products Contain Milk?

Check food labels for the following ingredients:

  • milk, butter, cream, or cheese
  • Nonfat dry milk or milk solids
  • Casein (milk protein)
  • Whey or whey solids (milk protein)
  • Lactose (milk sugar)

Avoid foods that contain these ingredients. If you have any questions, check with a nutritionist or doctor.

What Kind Of Medical Follow-Up Should I Expect With My Child?

Blood tests will be done several times during the first year, then less often as your child gets older. Routine examinations should be done as recommended by your doctor.

As your child gets older, you may not need to omit milk or milk products. Your baby's blood tests will help to determine the diet.

Parents' Guide to Galactosemia Part 1 (PDF)

Parents' Guide to Galactosemia Part 2 (PDF)

 
 
Last modified on: 8/24/2010 1:37 PM