What Is Galactosemia?

By albert
Reviewed: Dr. Mera
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2. Causes of Galactosemia

Galactosemia is a genetic disease classified into three types, namely classic galactosemia or type I galactosemia, galactokinase deficiency or type II galactosemia, and UDP galactose-4-epimerase deficiency or type III galactosemia.

All types of galactosemia are genetic, although they have some differences depending on the specific gene anomaly in each case. Galactosemia type I is an autosomal recessive disease, which means that children need to inherit 2 copies of the defective gene (one of each parent) to have the disease.


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