Galactokinase Deficiency Galactosemia (Galactosemia Type II)
Galactokinase deficiency galactosemia, also known as Galactosemia Type II, is a genetic disorder caused by a mutation in the GALK1 gene. This mutation leads to the loss of activity of the galactokinase enzyme, which is responsible for breaking down galactose. As a result, individuals with galactokinase deficiency are unable to fully metabolize galactose.
It is important to note that not all newborn galactosemia screening tests can detect this specific type of deficiency. Therefore, it is possible for an infant to receive a normal result on a newborn galactosemia test and still have galactokinase deficiency.
Epimerase-Deficiency Galactosemia (Galactosemia Type III)
Epimerase-Deficiency Galactosemia, also known as Galactosemia Type III, is a genetic disorder caused by inheriting mutated GALE genes. This genetic mutation leads to a partial loss of activity in the GALE enzyme. There are three types of epimerase deficiency – generalized, intermediate, and peripheral. Generalized epimerase deficiency is comparable in severity to classic galactosemia.
It is important to note that many newborn galactosemia screening tests do not include screening for epimerase deficiency, similar to galactokinase deficiency. Therefore, it is crucial to be aware of the different types of galactosemia and the specific screening tests required for accurate diagnosis and treatment.