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

Galactosemia A Rare draw Sugar Disorder Galactosemia is a rare congenital overthrow which affects the probosciss inability to convert brain sugar into glucose. Galactose is a oddball of sugar, which is a breakdown product of lactose. Lactose is found in draw and take out products, including breast milk. Given that the galactose can not be broken down, it builds up in the body and acts as a toxicant that can cause serious damage to its carrier(galactosemia). As milk is important to a babys diet, early diagnosis is meaty to avoid lifelong problems from this potentially fatal disorder (Chung). This research study provides info about the genetic part of Galactosemia, the cause, symptoms, diagnosis, treatment.The first trace of in doation that was brought to light about galactosemia was in 1908 by Von Ruess. He composed an hold of his findings in an infant with many of the symptoms we now relate to galactosemia. This work has widely been accepted by scientists as the first re ported case of galactosemia. However, at this time the diagnosis of galactosemia was not yet possible. It would be nine long time before a similar diagnosis of galactosuria was by and large accepted by scientists as a hereditary disorder. In 1917, galactosuria was treated by eliminating dairy farm 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 discovered the mutated gene that causes galactosemia. It is complete that the mutated gene is found encoded on chromosome 9. In 1963, a major break- d cardinal was unearthed. Galactosemia was the second disorder found to be detectable through immature screening. Finally, in 1970 galactosemia was acknowledged as a metabolic disease. Today scientists largely accept the notion that galactosemia is a rare metabolic disorder (disease). This disorder comes in two different vari ations. Though there is more than one type, it is still rare, having only 1 in 100,000 births being affected by the disorder (Feinbloom). Classic Galactosemia is the first and more common form of the disorder. This is the form when the affected has a complete loss of the enzyme. Both parents must brook a galactosemic gene for a child to receive the disorder. Since the accumulation of galactose behaves as a toxin in the body, serious complications such as an enlarged liver, kidney failure, cataracts, and brain damage may occur.