Classic galactosemia

What happens in this disease?

Galactose is part of milk sugar. It is found in breast milk and dairy products. In this disease, the enzyme that breaks down galactose hardly works at all. Galactose and its by-products build up and damage the liver, brain, eyes and kidneys.

Which symptoms can occur?

The baby looks healthy at birth. Once the baby starts having milk, symptoms can appear within a few days.

• Difficulty sucking and vomiting
• Weakness and poor weight gain
• Jaundice and liver damage
• A tendency to bleed
• Severe blood infection
• Cataract in the eye, meaning clouding of the lens
• Later, difficulty with speech and learning
• Early failure of the ovaries in girls (very common)

How is it diagnosed?

In many countries, it is found through newborn heel-prick screening. Enzyme activity and galactose products are measured in red blood cells. The diagnosis is supported by a genetic test.

Treatment and care

The most important step is to start a diet without milk sugar right away. Instead of breast milk and regular formula, a galactose-free formula is given. The diet is lifelong. Speech therapy, educational support and hormone support may be needed. Development and the eyes are checked regularly. New medicines specific to the disease are being researched. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through recessive inheritance. The mother and father are usually healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. When relatives marry, the chance that two carriers have children together is higher. Genetic counselling guides the family.