Galactosemia

Galactosemia

By Jane Jacobs, Neehar Haryadi, and Jacob White

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Works Cited

Ashino, Jiro. "Molecular characterization of galactosemia (Type 1)mutations in Japanese - Ashino - 2005 - Human Mutation - Wiley Online Library." Wiley Online Library. Human Genome Variation Society, 1 June 2009. Web. 29 Apr. 2013. <http://onlinelibrary.wiley.com/doi/10.1002/humu.1380060108/abstract?systemMessage=Wiley+Online+Library+will+be+disrupted+on+11+May+from+10%3A00-12%3A00+BST+%2805%3A00-07%3A00+EDT%29+for+essential+maintenance>.

Dennis, Gayle. "Galactosemia." UW Departments Web Server. Parents of Galactosemic Children, Web. 27 Apr. 2013. <http://depts.washington.edu/transmet/gal.html>.

"Galactosemia - Genetics Home Reference." Genetics Home Reference - Your guide to understanding genetic conditions. The United States Government, Web. 28 Apr. 2013. <http://ghr.nlm.nih.gov/condition/galactosemia>.

Mosetter, Reiner. "Galactose - What is Galactose?." Galactose - What is Galactose?. Web. 28 Apr. 2013. <http://www.galactose.org/>.

http://www.nationmaster.com/

encyclopedia/Recessive-gene

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First is the Worst

Now we shall discuss Type 1 Galactosemia. This is the worst type. Galactosemia in general mainly affects infants, but Type 1 leads to many health risks. This type may lead to cataracts, feeding difficulty, yellowing of skin, liver damage, bleeding, failure to grow and gain weight at a normal rate, and some mental disabilities may arise. If this disorder is not treated with dieting, then the person affected will die because he or she has too high of a galactose level in his or her blood. Although Type 1 happens once every 30,000-60,000 births, although it is autosomal recessive, it is still a very serious disorder. Unfortunately Type 1 is the most common type, while Types 2 and 3 can happen once every 100,00 births.

Galactosemia is.......

Delving Deeper

http://learn.genetics.utah.

edu/content/disorders/

whataregd/galactosemia/

Galactosemia is a genetic disorder that stops the simple

sugar galactose from being broken-down so that the body may use the energy from it. It does so by damaging the gene that creates the enzyme which breaks down galactose. The enzyme is either not present or in very low quantities. This leads to many health problems that may cause death. The enzymes that are affected are GALT,

GALKI, and GALE. The exact name of GALT is galactose-1-phosphate uridyltransferase. The exact name of the gene is FOXO3. The mutation that causes galactosemia is a substitution mutation on the FOXO3 gene. The missing of the GALT enzyme leads to Type 1 Galactosemia, also known as classic Galactosemia, this is the most dangerous type of Galactosemia. If the GALKI enzyme is not there, then the body results in having Type 2 or galactokinase deficiency. The GALE enzyme not being present result in type 3 or galactose epimerase deficiency.

For More Information Visit:

The Galactosemia Foundation

and

http://learn.genetics.utah.edu/content/disorders/whataregd/galactosemia/

Galactosemia affects the FOXO3 gene on

Chromosome 9. Galactosemia is also an autosomal recessive disorder.

Living with it

This is 9

Galactosemia is very hard to live with. If you have types 2 or 3 then you will have an easier time living with it than type 1. The diet that is needed for Galactosemia is that one who has the disorder cannot consume any dairy products, and foods that contain galactose. Ones affected cannot have dairy because they contain lactose. When digested lactose is broken down into glucose and galactose, since galactose comes from lactose people with Galactosemia cannot have it. Although some fruits and vegetables contain galactose in them ones affected can eat them because it is bound galactose which, from what we know, is not used by the body so it will not affect those who have Galactosemia. Although it appears safe scientists are conducting more research to confirm or disprove this assumption.

http://www.guam.net/pub/sshs/depart/science/mancuso/apbiolecture/12_chromohg/humangen.htm