Patient's question:
If the milk concentration for the infant is too high, will it lead to the detection of galactosemia?Doctor's answer:
Disease Analysis: Galactosemia is a genetic metabolic defect in humans, caused by a deficiency of 1-phosphogalactose uridylyltransferase, which leads to infants being unable to metabolize galactose produced by the breakdown of lactose in milk.Guidance: This disease is an autosomal recessive genetic disorder. Infants with galactosemia, due to the lack of the enzyme essential for breaking down galactose, cannot utilize galactose, resulting in elevated levels of galactose in the blood. Symptoms may include vomiting, diarrhea, liver enlargement, cataracts, developmental delay, and intellectual disability. Early diagnosis of this condition should involve eliminating galactose from the diet.