buttsigalactosemia

Name of Disease/Disorder (Times New Roman 14 centered) A rare disorder that affects the body’s ability to break down a food sugar called lactose. Normally, the body breaks down lactose into galactose and then into glucose a sugar used for energy. People with galactosemia are missing an enzyme called GATL galactose- transferase which converts galactose into glucose. Without this enzyme, harmful amounts of galactose build up in the blood.
 * Description: (TNR, 12, Bold) **


 * Inheritance: **

To get the disorder of the galactosemia the child must have the effective inheritance gene.

Kidney Failure Enlarged Liver, Cataracts, Poor Growth, Mental Retardation. People can inherit a milder form of the disorder when a different gene, also involved in galactose metabolism, is mutated. These patients often suffer from cataracts, but not the other symptoms associated with classical galactosemia.
 * Symptoms: **


 * Daily Life: **

Very normal with some restrictions.Although the degree can vary from person to person.


 * Diagnosis: **

In most states, babies are tested for galactosemia at birth. Using a tiny blood sample taken from the baby's heel, the test checks for low levels of the GALT enzyme. This allows for prompt treatment, which can substantially prevent the serious symptoms of this disorder.

 For those families with a history of the disorder, a doctor can determine during a woman's pregnancy whether her baby has galactosemia by taking a sample of fluid from around the fetus or by taking a sample of fetal cells from the placenta chorionic villus sampling or CVS.

Through dietary restrictions people with this disease must stay away from food and drinks containing: Glucose, milk, Cheese, and legumes. Treatment consist of avoid al milk, milk containing products and anything that has lactose
 * Treatment: **

Treatment consist of avoid al milk, milk containing products and anything that has lactose.
 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Research: **

<span style="color: black; font-family: Times,serif; font-size: 12pt;">Was first discovered in 1908 by the physician Van Rues. Classical Galactosemia affects in every 55000 Newborns.
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