Galactosemia: mild (Galactokinase), severe (Galactose-1-phosphate uridyltransferase)

 

Galactosemia (mild, severe)
Lactose (galactose and glucose disaccharide) à Galactose à Galactose-1-Phosphate à Glucose-1-phosphate
Galactose is converted into Galactose-1-phosphate by Galactokinase (which if deficient may result in mild Galactosemia).
Galactose-1-phosphate is converted to Glucose-1-phosphate by Galactose-1-phosphate uridyltransferase (which if deificient will result in severe galactosemia: mental retardation, cataracts, hepatosplenomegaly).
Lactose (glucose + galactose) à 1 Glucose + 1 galactose     [lactase]
1 Galactose à Galactose-1-phosphate   [galactokinase]
Galactose-1-phosphate à Glucose-1-phosphate [galactose-1-phosphate uridyltransferase]
Glucose-1-phosphate à Glucose-6-phosphate [phosphoglucomutase]

 

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