Why do we need to phospholirase glucose when goes into the cell?
Why you have different signs and symptons in
the 2 different galactosemia and the 2 different frutosemia?

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Phosphorylating glucose will help keep glucose inside the cell, and also it decreases glucose concentration, thus letting in more glucoses.

Galactosemia is a deficient of galactose-1-phosphate uridyltransferase, which leads to the accumulation of toxicity.
Fructosemia is a dificient of aldolase B, which leads to accumulation of fructose-1-P and decreases of Phosphates.
Therein lies the different causation of the different symptoms and signs.


However, I might be incorrect here.

Very good.

Next question

Why patients with Galactosemia have eye problems?
What eye problems do they have?
Other disease that might give you an eye problem with the child are?

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in galactosemia, a defieciency in galactose-1-phosphate uridyltransferase, there is build up galactose which is converted to galactitol by aldose reductase. galactitol is toxic and is accumulated in the lens causing cataracts. these kids would also have splenomegaly and mental retardation. Tx: exclude galactose and lactose from the diet.

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Galactosemia patient has cataracts b/c there is an accumulation of galactose. However, in adult patients, it is less severe b/c UDP-glucose pyrophosphorylase can metabolize galactose-1-P.

Other problems that can cause eye problem (cataract) in a child may have to do w/ genetics. However, if the mother has rubella during the embryonic periods, the child may develop congenital cataracts.



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