What Are the Clinical Manifestations of Pediatric Galactosemia? What Tests Are Needed for Diagnosis?

Pediatric galactosemia is a genetic disorder characterized by symptoms such as jaundice, loss of appetite, abdominal distension, diarrhea, vomiting, and hypoglycemia, which may also lead to cataracts within a few weeks after birth. For 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 typically required. If the enzyme is 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.
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