Maple Syr Urine Disease Research Paper

3292 Words 14 Pages
Maple Syrup Urine Disease
Hannah Gentry , 13SK , 8/21/2014

Maple syrup urine disease (MSUD) is a rare genetic disorder where an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain alpha-keto acid dehydrogenase complex, which are required in order to metabolize certain amino acids in the human body. In other words, it is a metabolism disorder, where the infant is unable to break down the amino acids: leucine, isoleucine, and valine. Build up of these amino acids and their byproducts will lead to symptoms such as poor feeding, vomiting, lethargy (a lack of energy), irritability, and a characteristic odour of maple syrup in the urine, cerumen (earwax), and sweat. If the disease is left untreated, infants
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The founders effect is when a small number of individuals are dispersed to, say a different country, and the new arrivals only carry a small proportion of the gene pool of the ‘parent’ population; the alleles of the colonists are therefore not representative of the parent gene pool and it is largely a matter of chance which alleles are present in the gene pool. However, children of Amish, Jewish, and Mennonite descent have a much higher prevalence than others; this is due to the colonies have a smaller population than the general census of the entire country, resulting in a higher chance of inbreeding, therefore the MSUD gene is passed on more vastly throughout the smaller, close-knit communities.
Consequent to the fast process of neurodegeneration in infants, early diagnosis and a specialized diet may allow for management for normal intellectual development; although treatments may still leave the individuals at risk for developing acute illness. MSUD has been added to many of the newborn screening programmes to ensure that the illness is found quickly and assertively, and preliminary results indicate that newborns that have no symptoms, but have MSUD have a more hopeful outcome from treatment than infants who later get diagnosed with MSUD when the symptoms
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In the case of humans undergoing selective breeding, it involves the donation of eggs and sperm. The reason some parents will choose to undergo this process is if one or both of the parents has a genetic disease that they do not want passed down to their children, the healthy egg or sperm can be donated from another person, preventing the disease from being passed on to other generations of their offspring. Traditional selective breeding involves selecting and breeding the certain organisms based on their phenotypic traits so that the desired traits are passed on to the following generations, also increasing their allele frequency in the gene pool. Many parents find this process to be unethical, as though they are creating their own designer baby rather than having the child in the natural process; but for some parents with painful and high maintenance diseases, this is their only way to have their own child without the disease being carried on through generations. Although the child is not both of the parent’s biological offspring, due to donation. Selective breeding is an alternative to child

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