Galactosemia

Galactosemia is a genetic disorder, in which the body is not able to break down galactose, which is a food sugar. This type of sugar is found in dairy products, such as milk.

Galactosemia is passed down in an autosomal recessive pattern, which means that in order to get the disorder, a child has to inherit one defective gene from each parent. To be a carrier, a child must inherit one normal gene and one defective gene. Galactosemia is caused by mutations in the GALE, GALK1, and GALT genes. These genes contain instructions for making enzymes, which are needed for processing galactose from food. They do this by breaking galactose down into glucose and other molecules that the body can store. The GALE gene is located on chromosome 1, the GALK1 gene is located on chromosome 17, and the GALT gene is located on chromosome 9.

Signs and symptoms:

-Kidney failure, an enlarged lover, poor growth, mental retardation, and cataracts, which is the clouding of the eye lens.

-People could also inherit a smaller form of this disorder, when a different gene is mutated.

To diagnose Galactosemia, doctors usually test babies at birth, using a small blood sample taken from the baby’s heel. This test checks if the baby has low levels of the GALT enzyme, which helps the doctor with future treatment. If a person has a family history of galactosemia, then the doctor can check if a woman’s child is going to have galactosemia, during her pregnancy. They do this by taking a small sample of the fluid that surrounds the fetus or taking some samples of the fetal cells from the placenta.

There is only one way to treat this disorder, which is staying away from food and beverages that contain galactose, such as cheese, milk, and other dairy products.

Galactosemia affects about 1 in every 55,000 people around the world. It occurs in people of all ethnic groups, but it is a little more common in people from Ireland.

If a baby is diagnosed with galactosemia and they are put on the correct formula, then they usually survive. If they continue to follow the correct diet, then their life expectancy is the same as everyone else’s.