Galactosemia
This is a rare hereditary disorder of carbohydrate metabolism that affects the body’s ability to convert galactose to glucose.
There are two varieties of this disorder:
1. Classical form – this is the more serious one and is due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase in erythrocytes and liver, where:
– after the child is fed with milk containing lactose and galactose, he will have vomiting, jaundice, liver enlargement, hypoglycemia and failure to thrive
– if untreated, the child will develop cataracts, abnormal neurological signs like seizures and mental subnormality
2. The second variety is due to a deficiency of galactokinase which is necessary for the initial phosphorylation of galactose.
This is the milder course than the first variety. Those having this variety:
– may have early cataract formation but noticeable in later childhood
– may otherwise be normal with no mental deficiency
The treatment of galactosemia consists of the initiation of lactose and galactose free diet as early as possible with lactose-free infant formulas.
If diagnosis is done early and treatment initiated promptly, there is a good prognosis on children with galactosemia.