Galactosemia Research Paper

Galactosemia is a disorder that adherently affects the way the body processes a simple sugar called galactose, which is a breakdown product of lactose (1). Lactose is found in all dairy products and in multiple baby formulas. Most importantly, the signs and symptoms of Galactosemia result from the inability to use galactose to produce energy (1). Classic Galactosemia occurs in 1 in 30,000 to 60,000 newborns (1). However, Galactosemia type II affects fewer than 1 in 100,000 newborns and type III seems to be very rare. Galactosemia type II and type III are less common (1,2). In addition, this disorder is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The biological parents of an

The genetic changes completely eradicate the activity of the enzyme created from the GALT gene, thus forestalling the normal processing of galactose. This creates severe signs and symptoms of this disorder (2,5). Furthermore, another GALT gene, known as the Duarte variant, is not as an aggressive gene, as it reduces but does not eradicate the activity of the enzyme. Individual who are diagnosed with Duarte variant are more likely to have much slighter characteristics of Galactosemia (4,5,6). Galactosemia deficiently (type II), is a direct result from the mutations in the GALK1 gene. There have been more than 30 mutations in the GALK1 gene in people with the form of Galactosemia type II. Individuals who are affected, develop clouding of the lens of the eye, easily referred to cataracts. Several of the mutations alter the single protein building blocks, also called amino acids in GLAK1(3,4,5). However, a small portion of mutations erase a small amount of genetic material from the GALK1 gene, subsequently resulting in an unbalanced form of this enzyme (5,6). A lack of appropriate and functional GALK1 genes hinders cells from processing galactose attained from the nourishments eaten. Consequently, galactose and a correlated sugar (galactitol) can accumulate in cells that make up the lens of the eye. This is due to the shortage of the critical enzymes (2,5,6). Thus, the build-up of these

Jaundice merely happens as it is a sign of liver damage and the physical symptoms are clearly seen on the body. Infants who have Galactosemia usually have diarrhea and vomiting within a few hours of having consumed milk or formula containing lactose (5,9). In addition, infants and children who are not treated ultimately die of liver failure. However, those who survive and remain untreated are most likely to have mental retardation and other impairment to the brain and nervous system (1,9). Damage to the brain increases the risk of development delay, speech difficulties and intellectual disability. Females with classic Galactosemia, are more likely to experience reproductive problems, due to premature ovarian failure.