Galactosemia+Wiki+MV

What is Galactosemia?
Galactosemia is a very rare disease/disorder, which does not allow the body to break down food a sugar that is found in food, called galactose. Galactose is the sugar found in milk and other dairy products. Galactose is produced when lactose is broken down, and then after the galactose is produced it turns into glucose. The body needs glucose, which is a source of energy for the body to use. However, people whom have galactosemia are missing an enzyme called GATL. GATL is an enzyme that converts galactose into glucose. Without galactose, the body will get harmful amounts of galactose build up in the blood.

How do people get galactosemia?
Commonly, galactosemia is passed down in an autosomal recessive patten, which means a child must inherit the gene from each parent. If the child receives one normal gene and one mutated gene, they are still a carrier of galactosemia. The galactosemia carrier produces less of the GALT enzyme, however, they are still able to break down glucose and not have symptoms of galactosemia. Although, the carrier shows no signs or symptoms in having galactosemia, they can still pass it down to their children.

What are the symptoms of galactosemia?
The main symptoms of galactosemia are kidney failure, an enlarged liver, cataracts, poor growth, and mental retardation. However, people can inherit a milder case of galactosemia, which happens when a different gene that is also involved in galactose metabolism is mutated. The patients with the milder cases of galactosemia show symptoms/suffer from cataracts, but no other symptoms.

How do doctors diagnose galactosemia?
Most of he time doctors test babies for galactosemia at birth. They test the baby by using tiny blood samples from the baby's heel, which is tested/checked for low levels of the GALT enzyme. If low levels are discovered, then prompt treatment is allowed and may prevent serious symptoms of galactosemia. Families that have a history of the disorder in their family, then the doctor can determine if the child is going to have galactosemia during the mother's pregnancy. The doctor can test the mother during pregnancy by taking a sample of fluid from around the fetus or by taking a sample of fetal cells from the placenta.

How is galactosemia treated?
The only way that galactosemia is treated is by dietary restrictions. These dietary restrictions consist of things such as, you must stay away from foods and drinks containing glucose. Food and drinks containing glucose are milk, cheese, and legumes.