Question
Pediatrics; What is galactosemia, a genetic disease?
Answer
Infants with galactosemia have a recessive homozygous genotype for this enzyme, due to the lack of this required enzyme, they cannot utilize lactose, resulting in a decrease in galactose levels in the blood. This leads to symptoms such as dry heaves, nausea, vomiting, liver enlargement, cataracts, developmental delay, and intellectual impairment. If not treated early and comprehensively, they may die in infancy. If diagnosed early, by feeding them with lactose-free and galactose-free foods, infants can grow and develop normally. If discovered later and the liver has been damaged, there may be recurrence of cataracts and intellectual impairment. Although treatment is possible, it is difficult to restore health.