Galactokinase deficiency galactosemia is due to a mutation in the GALK1 gene, which results in a loss of activity of the galactokinase enzyme. People with galactokinase deficiency are not able to fully break down galactose. Not all newborn galactosemia screening tests screen for this version of the deficiency. Therefore, an infant who receives a normal result on a newborn galactosemia test could still have a galactokinase deficiency.
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