PHENYLKETONURIA is an inborn metabolic disorder that has caused the mental deficiency of 1% of patients in institutions for the mentally retarded. By brilliant clinical detective work, Føiling discovered the disease in 1934.4-6 Jervis demonstrated the basic defect to be the absence of the liver enzyme that normally converts phenylalanine to tyrosine.7 In 1953 Bickel reported an effective chemically produced dietary treatment for the disease.1 It has since been established that children who have phenylketonuria can develop normal mentality if diagnosed and treated within a month or two after birth.8 It is yet to be determined whether the diet should be given for a lifetime, until a certain age, or for a determinable period of time.10
With the diagnoses of two phenylketonuric children in the course of psychiatric evaluations in 1956, we have had an opportunity to conduct a long-term evaluation
LANGDELL JI. Phenylketonuria: Eight-Year Evaluation of Treatment. Arch Gen Psychiatry. 1965;12(4):363–367. doi:10.1001/archpsyc.1965.01720340035005
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