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What is Galactosemia?

If your child has galactosemia [guh-lak-tuh-SEE-mee-uh], they will not be able to use a kind of sugar called galactose [guh-LAK-tohs]. Galactose is half of the chemical lactose, which is most common in milk.

Babies and children with galactosemia need to avoid eating or drinking anything that has milk in it, whether from breastfeeding or from an animal. If they get too much galactose, it may damage their liver, kidneys, eyes, or brain.

Most children who have galactosemia can have normal lives if they stay away from food and drinks that contain galactose. However, mild symptoms can still occur even if your child avoids foods and drinks that contain the chemical.

If your child has galactosemia, it may be beneficial to join a support group for people with the disease.

There are several kinds of galactosemia.

  • Classic, or type I galactosemia. This is the most common, and the most severe, type of the condition. Babies who have this type need to be on a galactose-free diet as soon as possible.
  • Type II galactosemia. This type causes fewer issues than type I. Children with this type may get cataracts, or clouding in their eyes, but don’t have as many other issues.
  • Type III galactosemia. This type is milder than type I, but worse than type II. Children with type III can have symptoms like cataracts, delayed development, kidney issues, liver problems, or intellectual disabilities.


If your child has galactosemia, they may have signs that include:

  • Convulsions
  • Irritability—child is too easily disturbed
  • Lethargy (being tired or drowsy)
  • Refusing to eat formula with milk in it
  • Not gaining weight well
  • Yellowed skin or eyes, called jaundice [JAWN-dis]
  • Vomiting

Other complications of galactosemia can include:

  • Cataracts in your child’s eyes
  • Tremors
  • Poor liver function
  • Poor speech development
  • Mental disability
  • Death, if the child gets too much galactose

When to See a Doctor

If your child shows any of the signs of galactosemia, contact your child’s doctor. If you know you have a family history of galactosemia, and are planning on having children, take steps to be prepared for the chance of the condition appearing your child.


Galactosemia is a condition that is inherited, or passed down from parent to child. If both parents have the gene that causes galactosemia, their children have a chance of getting the disease.

Diagnosis and Tests

Doctors may perform tests to check for galactosemia; some tests include:

  • A blood culture test for bacterial infection
  • A test to check how the enzymes are working in the blood cells
  • Urine tests for chemicals that may show galactosemia is present

Normal newborn screening tests can show signs of galactosemia, including:

  • Amino acids in the urine or in the blood plasma
  • Fluids in the abdomen
  • Low blood sugar
  • An enlarged liver


If your child has galactosemia, it’s important that they avoid foods and drinks that contains milk, and any other food or drink that has galactose in it, for the rest of their lives. Instead of milk, babies can be given special formula, such as:

  • Formula that uses soy
  • Other formulas that don’t contain lactose
  • Formula that is meat-based

Since your child can’t drink milk, or eat anything with milk in it, they will likely need another source of calcium. There are many other ways to obtain calcium without getting galactose.


If you know you have a family history of galactosemia, you may want to talk with a genetic counselor. They can help with your decision to become pregnant.

Many states check infants for signs of galactosemia. If the disease is suspected, stop giving your child any milk products and get a blood test to confirm that your child has the disease.

Galactosemia [guh-lak-tuh-SEE-mee-uh] is a condition where your child can’t process the chemical galactose. People with galactosemia need to avoid drinking milk and eating or drinking products that contain milk. Galactosemia is an inherited disease that can result in developmental delays in your child. Galactosemia is usually discovered in newborn screening.