Patient's question:
Doctor, my child has just been born for a few days, and the symptom of dry vomiting has appeared again. After a thorough examination at the hospital, it was found to be galactosemia, which made me panic. I would like to ask what are the causes and symptoms of galactosemia?Doctor's answer:
Galactosemia is a metabolic disorder caused by a congenital enzyme defect that blocks the normal metabolic pathway of galactose, leading to the accumulation of galactose-1-phosphate and galactitol in various tissues of the body, such as red blood cells, liver, kidneys, lenses, myocardium, and cerebral cortex. First, this disease is quite severe, and if it is severe, it can harm your child's soul. It may cause symptoms such as hepatosplenomegaly, cataracts, and intellectual disability. This disease is a metabolic disorder resulting from an enzyme deficiency caused by autosomal recessive inheritance over generations. This condition occurs because the body cannot break down galactose after consuming milk, leading to an increase in galactose levels.