What is Galactosemia
What is Galactosemia? It is rare genetic metabolic disorder which affects an individual's ability to properly moves the sugar galactose.
The Inheritance and frequency of galactosemia is when gene defect for galactosemia is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. Galactosemia is faulty gene usually emerges when two carriers have children together and pass it to their offspring.
There are no symptoms at birth with galactosemia , but jaundice, diarrhea and vomiting soon develop and the baby fails to gain weight. If galactosemia is not detected immediately , it will give you liver disease , cataracts , metal retardation , and even death. Death can happen as early as one to two weeks of age from severe bacteria infections. Children suspected to have galactosemia , whether diagnosed or having a positive newborn screening result showing galactosemia , should have a sepsis work up.
Studies show that since 1979 that 1 of every 7,500 live births will have have some form of galactosemia. Also it is estimated that 1 out of every 40 people is a carrier of this defective gene.
As children grow up with galactosemia they may encounter delays in speech. Also females may suffer from ovarian failure. Children try to have hope that someone can find a medicine or cure for galactosemia.
Treatment for galactosemia is the elimination of galactose and lactose from the diet throughout life. A person that has galactosemia will not be able to properly digest foods containing galactose. At this there is no chemical or drug substitude for the missing enzyme. An infant diagnosed with galactosemia will simply be changed to a soy-based formula that does not contain galactose. A person with galactosemia will not “grow out of it.”
The history of galactosemia was first discovered in “1908.” This infant increased to excrete galactsemia through the urine when milk products were removed from the diet. However, later the infant died because of other complications. Who found galactosemia was a man named “Von Ruess.” Von Ruess was the first to report on a patient with galactosemia.
Von Ruess saw that what he found was a big discovery for him. Von Ruess wanted to tell everybody what he found , so he told somebody that worked at a newpaper place and printed it. People found out what happen.
There is no way to prevent galactosemia. If you have galactosemia or have
A family history of the disorder, you can talk to a genec counselor when deciding to have children.Galactorsemia doesn't affect a specific group. It affects males affects males and females the same.
Galactosemia is a recessive gene passed by both parents. This is why it is so rare one in 50,000 both parents have to be carriers and both parents have to pass a gene in order for their child to have galactosemia. So even non carriers only have a 25% chance having a galctosemia child. The diet allows most protein containing foods other than milk and milk products. Foods that are ok like fruits, vegetables,grains,breads fat and sugar as long as they do not have ingredients that contain galactose. Some fruits and vegetables do contain small amounts of galactose. Recent research has shown that bond galactose may in fact be the usable by the body but further studies are needed to confirm this.
The genes that are related to galactosemia are Gale, Galki, Galt because theirs a mutation in it. The gale, and galki, galt provide instructions for making enzymes that are essential for processing the galcatose obtained from the diet. These enzymes break down lactose into another simple sugar, glucose, and other molecules that the body can store or use for energy.