- 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 more than 25 treatable diseases, including galactosemia.
- A screen positive result means that more tests are needed to know whether 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.
At a glance
|Approximate incidence in Ontario:
|Screening can prevent:
|1 in 60,000
|Galactose-1-phosphate uridyl transferase (GALT)
|Failure to thrive, liver damage, sepsis, death
|Galactose restricted diet
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.
- 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 regional 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.
- 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.
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)
- 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
- serious complication of infections (sepsis)
- problems with intellectual development
Treatment is started as early as possible and is lifelong.
- Treatment may involve a combination of:
- frequent feeding, especially when ill (babies with these diseases must not go a long time without food)
- a low protein diet and special medical foods
- vitamins and supplements such as vitamin B12 and carnitine, which are prescribed by a metabolic doctor
- occasionally liver and kidney transplants are needed
- A team, including a metabolic doctor and a dietician, cares for babies with these diseases.
- Regular follow-up tests are used to monitor and adjust treatments.
- Babies with these diseases have their health and development checked regularly.
- If signs of a metabolic crisis (above) occur, urgent medical care must be found.
- 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.