Galactosemia Essay -- essays research papers

GalactosemiaGalactosemia is an inborn error of metabolism. Because of energy barriers, essentially nvirtuoso of the chemical substance reactions that take place in lifespan things could occur at any measurable rate without the presence of a catalyst. Most catalysts in living things are enzymes that depend on their construction to be able to function. Their structure is determined by their coding on DNA. Inborn errors of metabolism, like the one seen in galactosemia, are caused by high-risk genes.Galactosemia is an inherited metabolic turnover in which the transformation of galactose to glucose is blocked, allowing galactose to increase to poisonous levels in the body (Chung 1997). Galactose epimerase, the enzyme in the liver that is required to break eat galactose, is deficient in galactosemia patients (Galactosemia 1995 and Wohlers, Christacos, and Harreman 1999). This enzyme works as a catalyst to travel rapidly up the breakdown of galactose. When on that point is a defic iency of this enzyme, the body cannot metabolise galactose as quickly as require, causing a toxic buildup (Olendore, Jenyan, and Bayden 1999). This indisposition is inherited in an autosomal recessive manner, this means that galactosemia is just now present in individuals with two defective copies of any one of the deuce-ace genes that causes it (Chung 1997). These genes are the genes that code for the three enzymes, galactosemia-1-phosphate-uridyl transferase (GALT), galactokinase (GALK), and uridyl disphosphogalactose-4-epimerase (Olendore, Jenyan, and Bayden 1999). Although carriers feed less than normal enzyme activity, carriers of the disease are unaware that they are carrying a defective gene since no symptoms are evident (Chung 1997). If two carriers of the same defective gene oblige children, the chance of their child getting galactosemia by having two copies of the same defective gene is 25% for each pregnancy (Elsas 1999). Every cell marrow has two copies of each g ene, therefore, if that one of the two copies is defective, enough of the enzyme is make and the pathway of galactose metabolism is not blocked (Olendore, Jenyan, and Bayden 1999). Most states have now included testing for galactosemia in newborn screening programs (Galactosemia 1995). However, if galactosemia is not found in a screening program, some symptoms appear within the... ...al of death (Galactosemia 1995).Unfortunately, many children are born each year with galactosemia and there is no medication that can treat it (Chung 1997). However, galactosemia is manageable and the symptoms can be greatly reduced by taking a few precautions. origin of all, babies whose GALT activity is less than 10% need to have all their take out products replaced by formula such as Isomil or Prosobee, which are promiscuous of lactose. Soy products bear other sugars such as sucrose, fructose, and non-galactose polycarbohydrates, which supply the needed energy to the baby. All lactose containi ng foods such as dairy products, tomato plant sauces, candies, and medicines should be avoided fro the remainder of the patients life (Elsas 1999). Finally, legumes, organ meats, and processed meats also contain galactose and should be avoided (Olendore, Jenyan, and Bayden 1999). Management of the diet becomes less important by and by infancy and early childhood because milk products are no lasting the primary source of energy (Elsas 1999). So, although galactosemia can be fatal, it is highly treatable and a patient can live a normal life with only a few changes in their diet.