Kaura+Galactosemia

**Description: **
 * Galactosemia **

Galactosemia is a rare disorder that affects the body’s ability to break down foods and sugars called galactose  (usually found in milk and many more diary products.) The body usually breaks down lactose which becomes galactose and then into glucose. People who have Galactosemia are missing an enzyme called galactose-1-phasphate. If they don’t have this enzyme, there will be harmful amounts of galactose build up in the blood, which can cause serious damage to your body.

**Inheritance: ** This disorder is usually passed down in a recessive pattern. To get Galactosemia, a child must inherit on defective gene from each parent. For example: If the dad has it and the mom does not have it the child won’t be affected, but it will be a carrier. But if the mom and dad both have it the child will most likely be defected. Inheriting one normal gene and one mutated gene still makes the person a carrier. A carrier produces less of the enzyme then normal, but it is still able to break down glucose and avoid having symptoms of Galactosemia.

**Symptoms: ** The build up of galactose in the body can cause several symptoms like: kidney failure, and enlarged liver, cataracts, poor growth, and mental radiation.

**Daily Life: **

Your voki will be inserted here to explain the day in the life of a person with this disorder (centered)

**Diagnosis: ** In most states babies are tested for Galactosemia at birth using a tiny blood sample taken away from the babies’ heel. The test they take usually determines if there missing an enzyme called GALT. So if the baby does have Galactosemia it can be treated right away and it will stop the baby from having symptoms. The families who have this disorder, the doctor can usually determine if there baby will have Galactosemia 1 by taking a blood sample from the fetus. Or if the child has Galactosemia 2 by taking a blood sample from the fetal cell which is usually located in the placenta.

**Treatment: ** The only way to treat this disorder (Galactosemia) is through dietary restrictions. People with this disorder must stay away from foods and drinks containing galactose, including milk, cheese, and dried beans. Another way to prevent this order is not to have a baby if you are a girl.

**Research: ** <span style="color: #f56e00; font-family: Times,serif; font-size: 12pt;">The treatment is just to avoid many dairy products. There is really nor way to prevent this disorder unless you stop reproducing. (Don’t have a baby.)

**<span style="font-family: Times,serif; font-size: 12pt;">Additional Facts: ** <span style="font-family: Times,serif; font-size: 12pt;"> Classical Galactosemia affects 1 in an every 55,000 new born.

Galactosemia was first discovered in the 1980’s by the physician Von Ruess. <span style="font-family: Times,serif; font-size: 12pt;">Galactosemia is only a genetic disorder.

**<span style="font-family: Times,serif; font-size: 12pt;">Punnett Square: **



**<span style="font-family: Times,serif; font-size: 12pt;">Pedigree Chart: **

**<span style="font-family: Times,serif; font-size: 12pt;">Resources: ** <span style="background-color: #ffffff; color: #f56e00; font-family: Arial,sans-serif; font-size: 10pt;">[|http://learn.genetics.utah.edu]