Galactosemia

             Galactosemia was discovered in 1908 by Von Ruess.In 1908, Von Ruess reported on a breast-fed infant with failure to thrive, enlargement of the liver and spleen, and galactosuria.The infant ceased to excrete galactose through the urine when milk products were removed from the diet. The infant however died because of other complications (www.savebabies.org). By 1977, galactosuria was a recognized inherited disorder and was treated by removal of milk products from the diet. In 1963, a major break- through was discovered.Galactosemia newborn screening method was developed by Guthrie and Paigen. Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie. This research paper provides information about the genetic and metabolic part of Galactosemia, the cause, symptoms, diagnosis, treatment, and socioeconomic factors.
             Every cell of the human body contains approximately 80,000 genes. The gene mutation that causes Galactosemia is an inherited disorder characterized by an inability of the body to utilize galactose. According to Parents of Galactosemia Children, "the chromosome pair location numbers for each enzyme difiency that affects the genetic part of Galactosemia are Galactose-1-phosphate uridyl transferase deficiency(GALT)-chromosome 9, Galactokinase deficiency(GALK)-chromosome 17, and Uridyl diphosphate galactose-4-empiridase deficiency(GALE)-chromosome 1" http://www.galactosemia.org/student_new.htm. According to the "Adult Metabolic Transition Project", Galactosemia means "galactose in the blood" http://depts.washington.edu/transmet/gal.html.Galactose is a type of food sugar found mainly in dairy products, and is produced within the body as well. The main source of galactose in the diet is milk products. Parents of children who have an inherited disorder are called "carriers", because they themselves don't have the disorder, but their son or daughters who are affected will have it.