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Phenylketonuria (PKU) is a rare autosomal recessive metabolic disorder caused by mutations in the PAH gene, leading to a deficiency in the enzyme phenylalanine hydroxylase. This enzyme is essential for converting phenylalanine (Phe)—an amino acid found in many protein-containing foods—into tyrosine. Without functional PAH, phenylalanine accumulates in the blood and brain,...

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