Galactosemia

• 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.

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)
• 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 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 
  • antibiotics 
  • 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.