Galactosemia

This essay has a total of 651 words and 3 pages.

Galactosemia

Galactosemia
Galactosemia is a genetically inherited metabolic disorder. This disorder leaves the
disabled with a partial or complete lack of the enzyme Galactose - 1 - Phosphate Uridyl
Transferase (GALT). This enzyme is found in the bloodstream and it is used for breaking
down the sugar galactose. This disorder comes in two different variations. Though there is
more than one type, it is still rare, having only 1 in 80,000 births being affected by the
disorder.

Classic Galactosemia is the first and more common form of the disorder. This is the form
when the affected has a complete loss of the enzyme. Both parents must contribute a
galactosemic gene for a child to receive this very deadly form of the disorder. Because
the body has none of the enzyme needed to turn galactose into glucose an accumulation
occurs that is like a poison and is highly fatal. Classic Galactosemia is treatable
through a strict diet of absolutely no lactose or galactose. Some common foods containing
these are dairy products, legumes, breast milk, and many other foods. A test for
galactosemia is done at the time of birth with other tests. If left untreated 75% of
infants will die. Some effects of having classic galactosemia include: an enlarged liver,
kidney failure, cataract, and brain damage.

Duarte Galactosemia is the second form. This form is when there is only a partial loss of
the enzyme. The activity is usually 25%-50% that of a normal child. A child can get this
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