Does your baby vomit when you feed him milk? Could it be Galactosemia?

It is a very happy day when a newborn baby comes home. The greatest joy for a mother is to breastfeed her baby. Because we know that breast milk is the best food for a baby. It provides all the nutrients a baby needs, as well as many things like antibodies that protect it from diseases. But imagine, after you breastfeed your baby, within a few days the baby becomes unable to drink milk, keeps vomiting, turns yellow, and dies. Seeing something like this, any mother or father is very scared. Sometimes the cause of this is a rare disease that many people have not even heard of. Today we are talking about one such condition, Galactosemia.

Simply put, what is Galactosemia?

Simply put, Galactosemia is a rare, congenital condition related to our body's metabolic processes. Babies with this condition are unable to convert galactose, a type of sugar found in the milk they drink, into energy, meaning they cannot digest it.

Now you may be wondering what this galactose is. The milk we drink, that is, breast milk and powdered milk, contains a type of sugar called lactose. This molecule called lactose is made up of two other simple sugars called glucose and galactose. Enzymes in the body of a healthy baby break down this lactose and convert the galactose part into energy.

However, in a baby with Galactosemia, the enzyme that converts galactose into energy does not work properly, or it is not produced at all . It is like a machine in a factory breaking down. Then, undigested galactose accumulates in the baby's blood. The galactose that accumulates in this way is very toxic to a newborn baby. If left untreated, it can even be life-threatening for the baby.

What causes this disease?

Galactosemia is a hereditary disease . This means that it is passed on to the baby through genes. For a baby to develop this disease, the baby must receive the defective gene from both the mother and the father.

If only one parent carries the defective gene, they are called a carrier. Carriers usually do not show symptoms. However, when two carriers come together, there is a chance that their child will develop the disease.

There are three main types of galactosemia.

Does your baby have these symptoms too?

A baby with Classic Galactosemia (Type I) appears completely healthy at birth. Symptoms begin to appear a few days after the baby begins drinking breast milk or lactose-containing formula.

Symptoms seen in the early stages

• Reluctance to drink milk and not asking for it.
• Continuous vomiting after drinking milk or shortly after.
• Yellowing of the skin and whites of the eyes (Jaundice) .
• Diarrhea .
• Failure to thrive and poor growth in the baby.
• The baby is always sleepy and lifeless.

Long-term effects if left untreated

If this disease is not diagnosed and treated early, the galactose that accumulates in the blood will begin to damage various organs in the baby's body.

• Cataracts .
• Frequent occurrence of severe infections .
• Liver damage and liver enlargement.
• Kidney damage .
• Damage to brain development , resulting in developmental disabilities such as learning disabilities.
• Some children may have problems with motor skills such as walking and using their hands.
• In the case of a female child, ovarian failure can occur after puberty. As a result, they often lose the ability to have children.

How is this diagnosed and treated?

Fortunately, there are tests that can detect this disease. In some countries, every newborn baby is tested for several rare diseases at the hospital. This is done using a small blood sample taken from the baby's heel (heel stick test).

If your baby has the symptoms mentioned above, your doctor will suspect it and order special blood and urine tests to confirm it.

What is the treatment if the disease is confirmed?

The main treatment for galactosemia is to completely eliminate lactose and galactose from the baby's diet.

• That means you can't give your baby breast milk . And you can't give regular formula either.
• Instead, special soy-based formulas recommended by the doctor should be given.
• Once the baby gets a little older, things like milk and dairy products (yogurt, cheese, butter) can't be added to the diet.
• Since some fruits, vegetables, and sweets may also contain small amounts of galactose, you should talk to your doctor and dietitian to find out exactly what foods are safe.
• Since milk is completely eliminated from the diet, the doctor recommends giving the baby the necessary calcium, vitamin D, and vitamin K in the form of nutritional supplements.

Duarte Galactosemia (DG) and other types

Duarte Galactosemia (DG) is a milder, less severe condition than Classic Galactosemia. Babies with this condition have some difficulty digesting galactose, but may not need a strict diet. Some babies can continue to breastfeed. However, this decision should be made only by your doctor.

Babies with types II and III also have fewer problems than those with the classic type. However, there is still a risk of developing things like cataracts, kidney and liver problems.