Galactosemia-+Gabby+DiGirolamo

Galactosemia Galactosemia is a rare disorder that affects the body’s ability to break down sugars (galactose). With this disease, people don’t have the GATL enzyme that converts galactose to glucose (sugar used for energy). When this happens, harmful amounts of galactose build up in the body.
 * Description: **

Galactosemia is passed down in an autosomal recessive pattern. The child must inherit one defective gene from each parent. If the child inherits one normal gene and one mutated gene, they become a carrier for Galactosemia. Carriers can break down glucose and not have symptoms; however, they can still pass the mutated gene down to their children.
 * Inheritance: **


 * Punnett Square: **

Build-up of galactose causes kidney failure, enlarged liver, cataracts (clouding eye lens), poor growth, and mental retardation. People that inherit a milder form of the disorder only suffer from cataracts.
 * Symptoms: **

In most states, babies are tested when born. Doctors take a tiny blood sample from the baby’s heel and test for low levels of the GALT enzyme. By treating it early, the doctors are preventing the serious symptoms from happening. For families with history of having the disorder doctor’s take a sample of fluid from around the fetus or taking fetus cells to determine if the baby has the disorder during pregnancy.
 * Diagnosis: **

Galactosemia is only treated through dietary restrictions. People with the disorder have to stay away from foods and drinks containing galactose, milk, cheese and dried beans.
 * Treatment: **

media type="custom" key="9656776"- Galactosemia was discovered in 1908 by the physician Von Rues. - Galactosemia affects 1 in every 55,000 newborns,
 * Interesting Facts: **

Parents of Galactosemia Children, Inc.
 * <span style="font-family: 'Times New Roman','serif'; font-size: 16px; line-height: 115%;">Support Groups: **

<span style="font-family: 'Times New Roman','serif'; font-size: 16px; line-height: 115%; text-indent: -0.25in;">- [|www.galactosemia.org/] <span style="font-family: 'Times New Roman','serif'; font-size: 16px; line-height: 115%; text-indent: -0.25in;">- []
 * <span style="font-family: 'Times New Roman','serif'; font-size: 16px; line-height: 115%;">Sources: **