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Hailey Sowders: Galactosemia

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Hailey Sowders

on 20 April 2010

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Transcript of Hailey Sowders: Galactosemia

GALACTOSEMIA SYMPTOMS:

Convulsions
Irratability
Lethargy
Poor Feeding
Poor Weight Gain
Yellow Skin and Whites of the eyes
Vomiting

Infants with Galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. Coli. Galactosemia is a condition is which the body is unable to use, or metabolize, simple sugar galactose.

People with this disorder have very few to no enzymes to break down galactose. Galactosemia is caused by defects in both copies of the gene that codes for an enzyme called galactose-1 phosphate uridyl transferase (GALT).

There are 30 known different mutations in this gene that cause GALT to malfunction. Galactosemia is inherited, recessive, and a result of a mutation. Treatments There are currently no ways to determine if you are a carrier, besides after you have the child.

75% of babies with Galactosemia die within two weeks if not diagnosed soon enough.

Currently the only cure for Galactosemia is to avoid foods containing galactose. Who gets it? Any gender or ethnic group can get Galactosemia, but it is currently on the rise in developing countries, such as Africa.

G g G g GG Gg Gg gg As you can see, if both parents are a carrier, there is a 50% chance of the baby being a carrier, 25% chance that it is normal, and a 25% chance of it having Galactosemia. How common is it? The current occurance rate of Galactosemia is 1 in 30,000 births. Sources www.depts.washington.edu/transmet/gal

www.healthofchildren.com/G-H/Galactosemia

Google Images HAILEY SOWDERS, MYLES LAMER, TIMOTHY GRACE, SAMANTHA VILLARREAL
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