Petina Benigno

Petina Benigno - Bio 4

Galactosemia

What is Galactosemia? What does it mean? Where does its name come from? How can it be harmful?

Galactosemia is a hereditary disease caused by the lack of a liver enzyme needed to digest lactose. Galactose is half of lactose, which is a sugar found in dairy products; lactose is in a wide variety of foods, especially dairy products. Since galactose cannot be broken down, it builds up in the cells and becomes toxic. Galactosemia is considered an inherited autosomal recessive trait. The statistics for inheriting this in white people are one out of 60, 000. The chance of getting some form of galactosemia are one in 7, 500. The defected gene that caused it was not found until 1956. Galactosemia was first "discovered" in 1908. By 1917, galactosemia was a broadly recognized inherited disorder and was treated by removal of milk products from the diet.

How do you inherit Galactosemia?

The gene defect for Galactosemia is an autosomal recessive genetic trait. If it is not recognized, the trait is unknowingly passed down from generation to generation. This gene usually is portrayed in the child when two carriers have children together. In this case, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect, and the other 25% chance is that nothing will show.

It is also estimated that 1 of every 40 people is a carrier of this defective gene.

What are the symptoms of this disease and how harmful are they? How long will someone live if they have Galactosemia?

Galactosemia usually causes no symptoms at birth, but jaundice, which is a yellow discoloration of the skin and eyes, diarrhea, and vomiting can happen if the baby does not gain weight fast enough. If this disease is not caught immediatly, it results in liver disease, cataracts, mental retardation, attacts to the central nervous system, and can even be fatal. Also, e. coli infections are common in untreated galactosemic infants.
Antibiotics are commonly prescribed for all galactosemic children who have ingested galactose to prevent side effects. Calcium supplements are recommended because the calcium from milk, a major source, is no available. As Galactosemic children get older they may have delays in speech, and females may suffer from ovarian failure. People who are traced as children and thos who have modified their diets (which is mainly restricting dairy products) have a very good chance of leading normal, healthy lives; the prognosis is for a relatively normal life. However, even if the affected people do not eat or drink products with galactose, some problems could still develop. A person with galactosemia will not grow out of it, and it can never be gotten rid of.

What should someone do?

Treatment for galactosemia is to not eat galactose and lactose throughout life. A person with galactosemia will never be able to digest foods with galactose in them. Currently, there is no medicine to take care of this problem. Galactosemia is often confused with lactose intolerance, but they are not similar.

How can I find out if I have galactose?

Studies show that 100% of infants can be detected in states that include testing for galactosemia in their birth screening programs.

How can I help people who have galactosemia?

Donate to the Hope for Humanity Foundation! It is a non-profit organization that truly cares for affected people of all ages. We have dietitions available for people in need of help with their diets. We also have a center for counseling, considering the magnitude effect on all members of the family of the affected person. We are dedicated to helping raise money for this disease to be cured, and we need your help! Please donate anything to the Hope for Humanity Foundation.

for information, contat us at (459) 555-8972 or by e-mail, at hopeforhumanity@aol.com.