What is Galactosemia

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Galactosemia Definition

Classic galactosemia is an inherited disease. Due to a defective gene, there is a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This enzyme is necessary for the conversion of galactose to glucose. Galactose is a simple sugar found in milk products. (The main sugar in milk is called lactose. It is made up of two simple sugars: galactose and glucose.) Glucose is the usable form of sugar in the human body.

Normally, the body converts 1-phosphate-galactose into glucose, which it then uses for energy. In galactosemia, galactose builds up in the blood. A buildup of 1-phosphate-galactose can cause severe damage to the liver, kidneys, central nervous system, and other body systems. If undetected, galactosemia is fatal.

A less severe form of this disease is due to galactokinase deficiency. This type may be managed with a few dietary restrictions. It does not carry the risk of neurologic or liver damage. However, the eye lens may be damaged, which can lead to Cataract.

This fact sheet describes classic galactosemia.


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