What is Galactosemia?

Galactosemia is a genetic condition which makes it impossible for people to process galactose, a type of sugar produced during the breakdown of lactose. As a result, galactose can build up in the body, causing a variety of medical problems which will lead to death if the condition is not treated. Screening for galactosemia is routinely performed at birth in many hospitals so that people can receive the appropriate treatment from infancy, and it is also possible for prospective parents to undergo testing to see if they carry the gene or not.

People with this condition lack the ability to produce the enzymes used to break down galactose. Galactosemia is recessive, which means that someone must inherit two copies of the defective gene for the condition to be expressed. People can be carriers without even knowing it, as someone with a single defective gene will not usually experience symptoms. A family history of galactosemia strongly suggests that someone carries the gene, even if he or she does not have the condition.

Liver problems such as jaundice and damage can occur in patients with galactosemia, and people also experience fatigue, brain damage, vomiting, and low blood sugar. The condition usually manifests in infancy, and it can be deadly within a few days if it is not treated. Even in cases of people who receive treatment, lifelong medical problems, including a susceptibility to infection, can occur.

The treatment is the complete elimination of lactose from the diet, which means that the person will not be allowed to consume dairy products. With a controlled diet, galactosemia is generally not an issue, although people do need to be aware that they will pass on a gene for the condition if they have children. People who are concerned about passing this metabolic disorder on may want to get genetic testing to determine whether or not they and their partners are likely to have children with galactosemia.

When screening for galactosemia is included in standard newborn testing, it allows parents to learn about the condition quickly so that they can address it. Prenatal screening can also be used to check for galactosemia. Newborn screening can reveal the presence of other conditions which require attention, and by identifying these issues early, doctors and parents can address them before they develop into a major problem. Patients also need to be educated about their condition from childhood so that they understand the critical importance of avoiding all dairy products.