Patient's question:
A child from one of my neighbors is very cute, but they have now been diagnosed with galactosemia and I am quite concerned. I would like to learn more about it and hope for a reply.Doctor's answer:
Hello, this disease is an autosomal recessive genetic disorder. In affected children, there is a lack of Gal-1-PUT in red blood cells and liver cells, which hinders the conversion of galactose-1-phosphate into glucose-1-phosphate. This leads to the accumulation of large amounts of galactose and galactose-1-phosphate in the bloodstream and tissues.