Galactosemia

According to Save Babies through Screening, "For each pregnancy of two such carriers, there is a 25 percent chance that the child will be born with the disease and a 50 percent chance the child will be a carrier for the gene defect" (www.savebabies.org).
             Galactosemia lacks an enzyme that helps the body break down galactose which causes the metabolic part of the disease. According to Linda Tyfield, there are three enzymes, which are galactokinase, galactose-1-phosphate uridyl transferase (GALT), and UPD galactose 4" epi-merase (European Journal of Pediatrics s204).Galactose cannot be broken down, so it builds up in the cells, body tissue, and bloodstream and will become harmful to patients that have Galactosemia.
             People with Galactosemia are unable to fully metabolize the simple sugar galactose. The cause of Galactosemia is the galactose, which makes up half of the sugar called lactose that is found in milk. Lactose is also called a disaccharide since it's made up of two sugars, galactose and glucose combined together. As stated in an article from Acta Paediatica, "Galactosemia is caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT) usually presents in infancy with liver disease, renal tubular disease, cataracts, vitreous hemorrhage, cerebral edema, sepsis and death if untreated" (948).
             Galactosemia doesn't have any symptoms at birth, but will soon develop as the person gain weight. The earliest symptoms of Galactosemia are vomiting, liver enlargement, and jaundice. Other symptoms that may also occur are bacterial infections, irritability, failure to gain weight and diarrhea. As stated in an article from The American Liver Foundation, "If unrecognized in the newborn period, the disease may produce liver, brain, eye, and kidney damage". All infants who develop jaundice or any kind of life threatening symptoms should be checked immediately for Galactosemia or any other kind of disease.