What exactly is Galactosemia?
It is a carbohydrate metabolism disorder in which the body is unable to fully break down the monosaccharide galactose to glucose for the body to use as energy.
Lactose is the combination of glucose and galactose, so people having Galactosemia will have to avoid any lactose or galactose containing products.
The term 'galactosemia' literally means too much galactose in the blood and too much galactose in the bloodstream is toxic to the human body.
Galactosemia is an inherited autosomal recessive disorder.
From the diagram above, it indicates that if both parents are carriers of the abnormal gene that is responsible for causing Galactosemia, each of their children would have 25% chance of being affected.
There are currently 3 types of the disease:
- Galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most common and most severe form)
- Deficiency of galactose kinase aka galactokinase deficiency
- Deficiency of galactose-6-phosphate epimerase aka galactose epimerase deficiency
According to statistics, Type 1 Galactosemia is the most common, affecting 1 in every 30,000 to 60,000. Type 2 is not as common, affecting only 1 in every 100,000 babies. Type 3 is very rare.
Picture references: http://www.newbornscreening.info/Parents/Images/Autosomal_R_I1.gif
Content references: http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm
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