Galactosemia!

Galactose is a food sugar found mainly in dairy products, especially milk. The ability for the body to break

down galactose comes from a specific enzyme. People with galactosemia lack this enzyme. So, their bodies cannot digest galactose properly, and it builds up in their blood. Galactosemia is an autosomal recessive genetic disorder.

The gene that codes for this enzyme, galactose-1-phosphate uridyl transferase (GALT), is located on chromosome 9. Many different mutations within this gene have been identified, and the most common mutation is called "Q188R". People with galactosemia have this mutation. A milder form of galactosemia, called the "Duarte variant", is also caused by a mutation within the GALT gene. Different changes within the GALT gene are what lead to variations in enzyme levels between individuals with galactosemia.

A person is diagnosed with Galactosemia as an infant, through a routine test of taking a blood sample from the heel right when they are born. The only treatment for a person with this disease is to adjust their diet. The goal of dietary treatment for galactosemia is to minimize galactose intake, which in turn minimizes galactose-1-phosphate production.

It is not possible for a person with galactosemia to have a galactose-free diet, because there is at least a tiny bit of galactose in everything. However, all persons with galactosemia should limit galactose intake from foods to a very low level. The galactose-1-phosphate levels of the individual determine the degree of dietary restriction necessary. If this strict diet is not followed, many problems can arise in the patient, like cataracts or liver problems.

However, as long as they adjust their diet accordingly, people with Galactosemia are expected to live a normal life expectancy, unless they are complicated with other problems or disorders.