Galactosemia is an inherited disorder in which galactose cannot be converted to glucose because the needed enzyme is missing. An infant with the disorder will fail to thrive within a week after birth due to anorexia (loss of appetite), vomiting and diarrhea unless galactose and lactose are removed from the diet.
The disaccharide lactose (milk sugar) is broken down into galactose and glucose.
If treatment is delayed, the baby remains physically small and becomes mentally retarded. Treatment consists of eliminating galactose and lactose from the diet of the patient.
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