Which metabolic pediatric disease results from inability to degrade an amino acid, leading to intellectual disability unless detected by newborn screening and treated early with dietary restriction?
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Correct answer: Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inborn error of metabolism due to phenylalanine hydroxylase deficiency; if untreated, phenylalanine accumulates causing intellectual disability — early detection and dietary management prevent this.
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