Review of the N314D Point Mutation on the GALT Gene and its Term Paper

Review of the N314D testify Mutation on the GALT Gene and its Relationship to Galactosemia Type I - Term Paper ExampleThe UDP- galactose, put in in the liver and erythrocytes, is required for the major cell functions like chemical signaling, building cellular structures, transporting molecules and producing energy. Since, galactose-1-phosphate is nephrotoxic to the parenchymal cells present prominently in liver, kidney and brain, accumulation of it in those organs leads to severe damage to them.According to Fleisher (2012), this unsoundness severely attacks 20% of the patients at the infant stage itself, and so Galactosemia type I is screened when an individual is noneffervescent in their infancy. The procedure, which utilizes dried blood on filter paper, screens for galactosemia by performing analysis on the nub galactose (galactose and galactose-1-phosphate), as headspring as the activity of the GALT enzyme itself. While effective, false dogmatics frequently occur collecti ble to environgenial factors and the high frequency of the Duarte-D2 mutation (N314D). (Carney et al., 2009). Environmental factors such as heat and humidity, as well as sample handling procedures, may affect the GALT assay providing for low activity and false positive results. The variation in the results may be even due to the sample handling procedures. Infants die at bottom a few days on exposure to milk, as lactose sugar present in the milk gets converted into galactose and this galactose accumulates in the infants. The accumulation of galactose-1-phosphate may lead to cirrhosis, cataract and severe mental retardation. Infants with this disease will have hemolysis, albuminaria and elevated clotting times, with hepatomegaly being the common cause. (Fleisher, 2012). If undiagnosed, or left field untreated, the mortality rate in infants is nearly 75% (Elsas et al., 1994). Additionally, even with a properly controlled, galactose-free diet, adults with galactosemia typically make symptoms as they grow older, some of these symptoms include learning