Most hospitals routinely test all newborns for an autosomal recessive disorder in which an enzyme in amino acid metabolism is NOT produced. In this disorder, lack of the enzyme leads to a buildup of compounds that damage brain tissue, possibly leading to mental retardation, unless a restricted diet is followed. What is the name of this disorder?

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The disorder described is phenylketonuria (PKU), an autosomal recessive metabolic disorder characterized by the deficiency of the enzyme phenylalanine hydroxylase. This deficiency leads to a buildup of phenylalanine, which can cause brain damage and mental retardation if not managed with a strict diet.

Most Hospitals Routinely Test All Newborns for an Autosomal Recessive