Monday, February 24, 2014

Different types of galactosemia

There are several different types of this disorder, but they're all relatively similar. The different types are all caused by mutations in the GALT, GALE, and GALK1 genes. The main difference between the forms of galactosemia are the damage they can cause.

1. Classic galactosemia (type I)- the most common and most severe form. It can cause severe damage to the liver, kidneys, central nervous system, and other body systems. If undetected, classic galactosemia is fatal. 

2. Galactosemia type II (also called galactokinase deficiency)- a less severe form of this disorder due to low levels of galactose kinase. It can be managed with a few dietary restrictions. This type does not carry the risk of neurologic or liver damage.

3. Galactosemia type III (galactose epimerase deficiency)- a form which can be severe due to low levels of galactose epimerase. This type can cause cataracts, delayed growth and development, liver disease, and kidney problems.

This diagram shows the areas that can be damaged by classic and type II galactosemia.
For more general information on the different forms visit: http://medical-dictionary.thefreedictionary.com/Galactosemia+type+3

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