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 a
In conclusion, Galactosemia is a rare genetic and metabolic disorder which may show signs and symptoms in an infant within weeks of life. A personal knowledge of your family history of Galactosemia is helpful if you consider having children. The disease can be treated with several treatments. Patients with Galactosemia should find it easier to manage what he or she may include in their diet so that they can live life as fully and as comfortable as possible. One specific socioeconomic factor that deals with Galactosemia is called Parents of Galactosemia Children Inc. (PGC). PGC is a national, non-profit, volunteer organization whose mission is to provide information, support and networking opportunities to families affected by the Galactosemia disease. Also, the group’s mission is to maximize the potential for normal develop newsletters, Galactosemia literature and dietary information about Galactosemia so that people will be more informed about the disease and the organization. To treat Galactosemia, all sources of galactose and lactose should be eliminated from the diet. According to an article from Lancet, the ages at which treatment begins and the severities of the disorder do not seem to affect the long-term outcome (Holton and Leonard 1242). All diary products from any animal and foods with dairy products in them must be avoided. For the exception of galactose, children with Galactosemia disease need the same kinds and amount of nutrients as any other child without this disease so that they can grow and develop normally. An infant with Galactosemia is given a milk substitute which is usually a soy formula. As a child with Galactosemia gets older in age, he or she will learn about certain items in t
Some topics in this essay:
Holton Leonard,
PGC PGC,
Acta Paediatica,
Liver Foundation,
Nutrition Dietetics,
Von Ruess,
Project” Galactosemia,
Robert Guthrie,
Babies Screening,
People Galactosemia,
milk products,
newborn screening,
galactosemia disease,
galactose-1-phosphate uridyl transferase,
inherited disorder,
galactose-1-phosphate uridyl,
uridyl transferase,
foods allowed,
newborn screening test,
transferase galt,
blood test,
percent chance child,
galactosemia children,
uridyl transferase galt,
parents galactosemia children,
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Approximate Word count = 1173
Approximate Pages = 5 (250 words per page double spaced)
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