Question
What are the clinical manifestations of pediatric galactosemia? What tests are needed for diagnosis?
Answer
Pediatric galactosemia is a genetic disorder of galactose metabolism, primarily manifested by symptoms such as jaundice, loss of appetite, abdominal distension, diarrhea, vomiting, and hypoglycemia, and may also result in cataracts within a few weeks after birth. To confirm the diagnosis, blood and urine tests for galactose concentration, as well as the measurement of 1-phosphogalactose uridylyltransferase levels in the child’s red blood cells, are usually required. If the enzyme is found to be completely or nearly completely absent, galactosemia can be diagnosed. Early diagnosis involves eliminating galactose from the diet and may require lifelong adherence to this dietary restriction. With timely treatment, conditions such as cataracts, liver enlargement, and liver cirrhosis can be reversed.