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Maple Syrure Research Paper

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Have you ever had maple syrup? Could you imagine having urine that looked like maple syrup? Maple Syrup Urine is a genetic disorder. What symptoms happens to the body is that Maple Syrup Urine is a disorder in which the body can't break down certain parts of protein. The urine can smell like maple syrup. This disorder is passed through families, and “is caused by a defect in 1 of 3 gene.” (medlineplus.gov). “This disorder can’t break down the amino acids,leucine,isoleucine, and valine”.(medlineplus.gov). It is also a build up of these chemicals in the blood. Most severe form can damage the brain during times of stress (infection, fever, or not eating for a long period of time.) Some side effects of this are coma, feeding difficulties, lethargy, …show more content…

Causes
Also what happens inside the body is there will be signs of ketosis (buildup of ketones, a byproduct of burning fat) and excess acid in the blood (acidosis)
Many states now screen all newborns with blood treating or Maple Syrup Urine disease.
Inherited
The disease is inherited usually by 2 carries of the disease or a person with the disease or a person with the disease and a carrier of the disease. “BCKD, a protein complex is located on chromosome 19 where the genes get mutated MSUD are BCKDHA, BCKDHB,DBT and DLD. (wiki.ggc.usg.edu)

Treatment
The treatment involves a protein free diet. Fluids, sugars, and sometimes fats are given through an IV. Long term treatment requires a special diet that they need to follow. Also for infants their diet includes a formula with low levels of amino acids leucine, and valine. Must contain a low diet in these amino acids for life. It is very important to follow this diet to prevent nervous system damage. It also requires frequent blood test …show more content…

How common is it?
This disorder affects one out of every 185,000 babies born worldwide. Also it is found in many countries throughout the world, although the condition is more common in certain ethnic groups. “About one out of every 380 babies from the old order mennonite population is affected by the condition. French- Canadian ancestry and Ashkenazi Jewish ancestry.” (babyfirsttest.org) “In Maple Syrup Urine Disorder the group of enzymes called branched-chain ketoacid dehydrogenase (BCKAD) complex is not working correctly. BCKAD is a group of four enzymes that work together to break down the amino acid leucine.”

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