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Newborn Screening Ontario
Screening Results

GalactosemiaDownload version for offline viewing or printing
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At a Glance

Approximate Incidence in Ontario

1 in 60,000

Marker Measured

Galactose-1-phosphate uridyl transferase (GALT)

Screening can Prevent

Failure to thrive, liver damage, sepsis, death

Treatment

Galactose restricted diet

  • Screening is Important
    • In Ontario, a heel prick is used to take a few drops of blood from each baby shortly after birth. The blood is tested for 29 treatable diseases, including galactosemia.
    • A screen positive result means that more tests are needed to know whether or not a baby has galactosemia. It does not mean that a baby has galactosemia. Babies identified at a young age through screening can be treated early to help prevent health problems.
  • What is Galactosemia?

    Galactosemia is a rare inherited (genetic) disease.

    • Babies with galactosemia cannot break down galactose.
    • Galactose is a type of sugar found in breast milk and many other foods.
  • Screening Positive for Galactosemia
    • It is normal for parents and guardians to feel worried when their baby has a screen positive result. A ‘screen positive’ result does not mean that a baby has galactosemia. It means that there is a chance that the baby may have galactosemia.
    • Follow-up testing is important to find out whether the baby truly has galactosemia. Babies with galactosemia are healthier if treatment begins early.
    • The baby’s health care provider or a health care provider at a newborn screening treatment centre will discuss the results with the baby’s family.
    • Follow-up testing is arranged as soon as possible and involves blood and sometimes urine tests.
    • It can take a few days to weeks to find out if a baby truly has galactosemia or not. This waiting period can be hard for families.
  • Possible Follow-up Test Results
    • Normal – the baby does not have galactosemia.
    • Abnormal – the baby does have galactosemia and will need treatment. The family will be supported by a team of caring specialists.
    • Inconclusive – more testing is required. The baby will be followed closely by a specialist to ensure that he/she receives optimal care.
  • Signs and Symptoms

    Although babies with galactosemia are normal at birth, they may develop serious health problems without treatment. Early signs of galactosemia usually appear within a few days to weeks after birth. They include:

    • feeding problems (poor weight gain)
    • diarrhea
    • vomiting
    • extreme sleepiness (lethargy)
    • yellowish skin (jaundice)
    • enlarged liver

    Early treatment helps to prevent serious and life-threatening health problems such as:

    • low blood sugar (hypoglycemia)
    • liver damage
    • cataracts
    • serious complication of infections (sepsis)
    • seizures
    • problems with intellectual development
  • Treatment
    • Treatment begins as early as possible.
    • Treatment involves a special diet that is low in galactose. Extra vitamins and minerals are given to support normal growth.
    • Treatment is lifelong.
    • A team, including a metabolic doctor and a dietitian, cares for babies with galactosemia.
    • Regular follow-up tests are used to monitor and adjust treatments.
    • Babies with galactosemia have their health and development checked regularly.
  • Living with Galactosemia
    • When treatment starts early, there is a much better chance for normal growth, development and intelligence.
    • Although early treatment will ensure the best outcome, some children with galactosemia may still develop cataracts, speech problems, co-ordination problems, and intellectual difficulties.