panaha+galactosemia

Galctosemia Galactosemia is a rare disorder that affects your body’s ability to break down a food sugar known as galactose. (Found in milk products and other dairy products) People with Galactosemia are missing an enzyme GATL. This normally converts galactose into glucose. (C6 H12 O6) Without this enzyme harmful or deadly amounts of galactose build up in the blood. An example of an organ affected by this disease is the brain.
 * Description: **


 * Inheritance: **

Galactosemia is inherited with Autosomal Recessive Ineritance. You inherit it if both your mom and dad are carriers. Therefore, each one of your parents must pass on one copy of the gene to make their offspring have galactosemia. Cool fact: This disease occurs in approximately 1 out of every 60,000 births among Caucasians.

Symptoms of galactosemia are very severe. These symptoms include kidney failure, an enlarged liver, cataracts, poor growth, or even mental retardation. Other signs include: Amino acids with urine or low blood sugar……
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 * Diagnosis: **

Thankfully, there are many ways, galactosemia can be diagnosed. Babies can be tested at birth. Doctors do this by taking a tiny blood sample from the baby’s heel. Families with a history of galactosemia can be diagnosed too. A doctor can determine during a woman’s pregnancy whether the baby has the disease or not by taking a fluid from around the fetus or by taking a sample of fetal cells from the placenta. (CVS)

People with galactosemia can be treated. People with it can’t drink or eat dairy products. (Galactosemia can be prevented. Many states already screen all newborns for galactosemia) The life expectancy of people with galactosemia is the same as everyone else as long as they follow that strict diet of no-dairy products.
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Galactosemia can be prevented by genetic counseling. Other than finding a way to cure this disease using genetics, there is no research being conducted. However, Galactosemian children’s parents created a research fund known as the PGC. But, there is no research information public.
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<span style="color: black; font-family: Times,serif; font-size: 12pt;">Up to 75% of infants with this disorder will die within days if untreated. In order for a newborn child to get galactosemia, both parents have to pass the genes. Therefore, there is a 25% chance for a known carrier having a galactosemia child. Galactosemia is a recessive gene.
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 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Resources: **


 * <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">1. [|www.learn.genetics.utah.edu/content/whataregd/galactosemia] **
 * <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">2. www.galactosemia.org/studentresearch.asp **
 * <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">3. [|www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001405] **