THE IMPORTANCE OF EARLY DIAGNOSIS AND TREATMENT OF PHENYLKETONURIA

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Abstract
Recent experience with a low phenylalanine diet indicates that the mental retardation usually associated with phenylketonuria is preventable provided the treatment is started early, ideally within the first few weeks after birth. The benefits will be progressively less the longer the child goes without treatment. The diet has no effect upon the inherited metabolic defect, but prevents the oligophrenia and the neurologic symptoms found in untreated cases.

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