Newborn Screening for Metabolic Disorders

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Abstract
In 1934 phenylpyruvica oligophrenia was identified as a biochemical disorder associated with mental retardation.1 In succeeding years, this disorder, now known as phenylketonuria (PKU), was clearly established as inherited, as accompanied by increases in phenylalanine and related metabolites in body fluids and tissues, and as a cause of brain damage.2 Most importantly, studies indicated that this brain damage probably occurred totally or predominantly after birth and that a special diet low in phenylalanine could both control the major biochemical abnormalities and prevent the manifestations of brain damage, including mental retardation.3 , 4 Beginning in the 1950's and continuing to the present, researchers . . .

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