Galactosemia: A Rare Milk Sugar Disorder :: essays research papers

galactosemia A Rare Milk Sugar Disorder Galactosemia is a rare unlearned disorder which affects the bodys inability to convert galactose into glucose. Galactose is a type of sugar, which is a breakdown product of lactose. Lactose is be in milk and milk products, including breast milk. Given that the galactose idler not be broken down, it builds up in the body and acts as a poison that can cause serious damage to its carrier(galactosemia). As milk is important to a babys diet, archeozoic diagnosis is essential to avoid lifelong problems from this potentially fatal disorder (Chung). This research paper provides information about the genetic part of Galactosemia, the cause, symptoms, diagnosis, treatment.The root trace of information that was brought to light about galactosemia was in 1908 by Von Ruess. He composed an article of his findings in an infant with many of the symptoms we now consort to galactosemia. This work has widely been accepted by scientists as the first inform case of galactosemia. However, at this time the diagnosis of galactosemia was not yet possible. It would be nine years before a similar diagnosis of galactosuria was generally accepted by scientists as a hereditary disorder. In 1917, galactosuria was interact by eliminating dairy products from an individuals diet. (galactosemia) The discovery of galactosemia was published by Manson and Turner in immense detail. Although this disease was recognized earlier, it was not until 1956 that scientists notice the mutated gene that causes galactosemia. It is know that the mutated gene is found encoded on chromosome 9. In 1963, a major break- through was unearthed. Galactosemia was the second disorder found to be detectable through newborn screening. Finally, in 1970 galactosemia was acknowledged as a metabolous disease. Today scientists largely accept the notion that galactosemia is a rare metabolous disorder (disease). This disorder comes in two different variations. Though there is mo re than one type, it is still rare, having only 1 in 100,000 births existence affected by the disorder (Feinbloom). Classic Galactosemia is the first and more popular form of the disorder. This is the form when the affected has a complete loss of the enzyme. twain parents must contribute a galactosemic gene for a child to come the disorder. Since the accumulation of galactose behaves as a toxin in the body, serious complications much(prenominal) as an enlarged liver, kidney failure, cataracts, and brain damage may occur.