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Phenylketonuria
Background
Phenylketonuria (PKU) is an inherited metabolic condition where there is a defect in phenylalanine hydroxylase. This enzyme normally converts phenylalanine, an essential amino acid in dietary protein, in the body into tyrosine. Only a small quantity of phenylalanine is required to ensure normal growth. Where there is an enzyme block, due to the defect in phenylalanine hydroxylase, phenylalanine accumulates in the body tissues and affects the normal development of the brain causing learning difficulties learning disability.
