Screening for galactosemia

Galactosemia screening is a genetic disease in which newborns have an increase in galactose in the blood and urine. The main symptoms are nutritional disorders, cataracts, mental retardation, and hepatosplenomegaly. The disease occurs in people with a congenital deficiency of galactose-1-phosphate uridine transferase. When galactose is absent from food, symptoms may improve. Typical cases occur during the perinatal period, and symptoms such as vomiting, antifeeding, weight loss, and drowsiness often occur within a few days after feeding to the dairy, followed by jaundice and liver enlargement. Failure to diagnose in time and continue feeding to the milk will further worsen the condition, and end-stage symptoms such as ascites, liver failure, and bleeding will occur within 2 to 5 weeks. Such as the use of slit lamp examination, early onset of cataract formation can be found. About 30% to 50% of children develop Escherichia coli septicemia in the first week of the disease, which makes the disease more serious.