Question
What are the causes and symptoms of neonatal galactosemia?
Answer
Galactosemia is a disease caused by a congenital enzyme defect that obstructs the normal metabolic pathway of galactose. This condition leads to the accumulation of intermediate metabolites, galactose 1-phosphate and galactitol, in various tissues such as red blood cells, liver, kidneys, crystals, myocardium, and cerebral cortex. In severe cases, it may affect the child’s intelligence. Symptoms may include liver and spleen enlargement, cataracts, and intellectual disability. Galactosemia is a chromosomal recessive genetic disorder transmitted across generations. It occurs due to the inability to break down galactose after consuming milk, leading to the accumulation of galactose in the body.