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Galactosemia
1
What is the enzymes' function?
In order for us to get the energy we need from eating sugars. We have special enzymes that break down glucose. Glucose is what the body uses for fuel. This enzyme’s job is to change galactose into glucose.
How is someone affected by this enzymes deficiency?
www.1vigor.com
When the GALT enzyme is missing or not working properly, galactose cannot be changed to glucose so it builds up in the blood in large amounts. Unless treated, the excess galactose will affect many parts of the body and may be life-threatening.
newbornscreening.info
Galactosomia
By: Aidana Mercier 7th
How is the deficiency diognosed?
It is usaully diagnosed by a blood test when your born.
pregnancyandbaby.com
What happens if not treated?
nursingcrib.com
If not treated you could develop..
- hypoglycemia(low blood sugar),
- seizures,
- enlarged liver that doenst function correctly,
- bleeding
- serious blood infections
"Galactosemia." Genetics Home Reference. N.p., 5 Aug. 2014. Web. 12 Oct. 2015.