Galactosemia, metabolic disease

Galactosemia is a metabolic disease that is hereditary. It happens rarely. An enzyme that breaks down the sugar galactose is missing. The disease is congenital. The child is born normally but will soon show some symptoms that allow the disease to be recognized. Galactosemia used to be fatal, but nowadays it can be treated fairly well.

Metabolic disease

Galactosemia is a metabolic disease, also called a metabolic disease. A metabolic disease is often hereditary and familial, and is characterized by the lack of a certain enzyme. As a result, the metabolism does not function properly. In galactosemia, the enzyme galactokinase is missing. This enzyme is responsible for the conversion of the sugar galactose.

Is galactose important?

Galactose is a sugar found in lactose, a milk sugar. Lactose is broken down into glucose and galactose. Galactose is very similar to glucose but less sweet. In addition to dairy products, galactose is also found in bread and breakfast cereals. Galactose plays an important role in the formation of breast milk. If galactose is not broken down or if there is an excess of it, the kidneys could cause problems. It also causes an increase in stress hormones, which can cause all kinds of complaints. Antioxidants are also said to work less well and have been linked to ovarian cancer. People with too much galactose also experience severe and permanent memory loss and the aging process accelerates.

Hereditary but rare

This disease is hereditary. This means that generation 1 is only a carrier and generation 2 has the disease. When the child has the disease, both parents are carriers of galactosemia. Galactosemia occurs in 1 in 30,000 births. In the Netherlands, more than 200 people live with galactosemia. About 5 to 6 babies are born with this disease every year. This indicates how rare the disease is. The number of patients is expected to increase in the future, as more and more babies are treated quickly. In the past, almost every patient died of galactosemia. Screening for galactosemia can be done at birth. Blood tests and urine tests can be used to determine whether the body is able to break down galactose. Without treatment, the disease is fatal.


Newborn babies with galactosemia do not show any symptoms in the first few days. They just drink breast milk or bottled milk. Both contain lactose, and the first problems occur after about five days. Galactose is not broken down due to the lack of the enzyme and has a toxic effect on the body. The baby starts drinking poorly and loses weight. Babies should normally gain some weight every day, although this is sometimes different with breastfeeding in the first few days. The baby will have diarrhea and vomit a lot. Because the liver no longer functions properly, the baby will start to look yellow, which is different from jaundice in the first few days after birth. Babies often develop galactosemia. also cataracts. The baby will become so sick that it will need immediate treatment. There is a risk of kidney and liver failure: this is fatal.


First it must be determined whether it is galactosemia. go. This is done through an examination by taking blood and urine. Treatment mainly consists of a galactose-restricted diet. Milk can be replaced with soy milk. Bread also contains lactose, although nowadays more and more lactose-free bread is available. Due to this strict diet, the prospects are often relatively favorable. However, problems can still arise later. For example, there are women who become infertile or have reduced fertility. Bone density can also decrease significantly, causing bone fractures to occur more quickly. To monitor this, measurements are regularly taken to measure bone density. This is done using X-rays, which show the bone structure. In children we often see delayed language and general development. Many problems can be managed with good attention and guidance at school and speech therapy.
In addition, the patient will have to undergo regular urine tests to determine whether there is galactose in the urine. If this is the case, the diet will have to be examined even more closely. There are no medications that can cure the disease, nor are there any therapies or alternative treatments that have cured the disease to date. One will have to adhere to the strict diet for life. Eating out is not an easy option: you have to pay attention to everything. Yet children with galactosemia. not necessarily pathetic. Lactose-free products are increasingly coming onto the market and a lot can be done by cooking yourself.

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