BERT N. LA DU, M.D., Ph.D.
In the short space of 25 years since Fölling first identified phenylpyruvic acid in the urine of a mentally retarded patient,1 our knowledge of phenylketonuria has advanced remarkably. We now have an intimate understanding of its cause at a biochemical level, and as a result of this information, it has been possible to develop an effective means of therapy to prevent the mental deterioration which, until recently, had appeared to be inevitably associated with the metabolic defect.
Phenylketonuria properly belongs in the group of diseases designated "inborn errors of metabolism" by Sir Archibald Garrod.2 The well-documented hereditary pattern of this
LA DU BN. THE IMPORTANCE OF EARLY DIAGNOSIS AND TREATMENT OF PHENYLKETONURIA1. Ann Intern Med. 1959;51:1427–1433. doi: 10.7326/0003-4819-51-6-1427
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Published: Ann Intern Med. 1959;51(6):1427-1433.
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