What is the maple syrup urine disease?

The maple syrup urine disease is a permanent disorder , in which the body is unable to process certain amino acids. If untreated, the maple syrup urine disease can lead to seizures, coma, and death. The maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide , and 1 in 380 newborns , It's a rare genetic disorder where certain enzymes break down in amino acids found in protein rich foods , but with certain patients those enzymes are absent allowing the amino acids to recape on the brain causing you to not move.

The maple syrup urine disease is caused by a gene defect. People with this condition cannot break down the branched-chain like amino acids , leucine, isoleucine, and valine. This leads to a buildup the chemicals in the blood. Also the maple syrup urine disease is found on chromosome 19 , and there is no cure for the maple syrup urine disease.

When you get the maple syrup urine disease , if you don’t get treated and there's nothing else the doctor's can do you will have it for the rest of your life and then when you get older you may walk a little sideways and talk where people can not understand you.

Treatments- When the condition is diagnosed, and during the disease you need, treatment that involves eating a protein-free diet , by Getting , fluids, sugars, and possibly fats are given through a IV . Also you need to try to reduce the amino acids.

Symptoms- Avoiding food , Coma , Seizures , Family history of MSUD , Urine that smells like maple syrup ,Vomiting, and can also cause you to not blink for a few minutes , it's very dangerous , and if you see these symptoms you need to call a doctor right away.



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A Magnify picture of the Maple syrup urine disease


"Maple syrup urine disease." Genetics home reference. n.p., 3 Jan. 2011. Web. 5 Jan. 2011.

"Maple syrup urine disease." medline plus. n.p., 15 Dec. 2010. Web. 5 Jan. 2011.


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