Metabolism of galactose: Classic Galactosemia, Galactokinase deficiency 

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Metabolism of galactose: Classic Galactosemia, Galactokinase deficiency
Galactose is a monosaccharide sugar that is a C-4 epimer of glucose.
Principally there are 2 enzymes involved in the metabolism of galactose, they are galactokinase (GAL-K) and galactose-1-phosphate uridyltransferase (GAL-T). Note there are also UDP-galactose-4’-epimerase (GAL-E) and mutarotase (GAL-M) which are involved in the process but are less clinically significant.
Dietary galactose enters glycolysis/gluconeogenesis by first being phosphorylated to galactose-1-phosphate by galactokinase. This enzyme is present in many tissues but is most active in the liver.
Clinical correlation: A deficiency of galactokinase leads to non-classical galactosemia, a rare and mild galactosemia.
The galactose in galactose-1-phosphate is then transferred to UDP-glucose by galactose-1-phosphate uridyltransferase to yield UDP-galactose and glucose 1-phosphate. UDP-galactose is then converted back to UDP-glucose by GAL-E and the cycle repeats.
Clinical correlation: A deficiency of galactose-1-phosphate uridyltransferase leads to the genetic disease Classic Galactosemia, which is a severe disorder if not caught early by infant screening.
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