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January 1969

Causes for High Phenylalanine With Normal TyrosineIn Newborn Screening Programs

Author Affiliations

Chicago; Berkeley, Calif; Chicago
From the Northwestern University Medical School, Chicago (Drs. Berman and Hsia); the State of California Department of Public Health, Berkeley, Calif (Drs. Cunningham and Day); and the Children's Memorial Hospital, Chicago (Dr. Ford). Doctor Berman is now with the Chicago Medical School, Chicago. Doctor Day is now with the University of Washington, Seattle. Doctor Hsia is now with the Loyola University-Stritch Medical School, Hines, Ill.

Am J Dis Child. 1969;117(1):54-65. doi:10.1001/archpedi.1969.02100030056006

ALTHOUGH phenylketonuria was described by Asbjörn Fölling1 over 30 years ago, it is only recently that we have begun to appreciate the full clinical spectrum of the disorder and to get a critical appraisal of the value of a low-phenylalanine diet in preventing the mental defect in such patients.2

Much of this confusion has come about because of differences in methods of ascertainment for phenylketonuria. In the beginning, it was felt that the disorder could only be detected in the patient who developed clinical symptoms, most prominently mental retardation. As a result, it was believed that all patients with phenylketonuria were mentally defective3 and the occasional "atypical" phenylketonuric person with normal or near-normal intelligence was considered to be sufficiently unusual as to be worthy of reporting separately.4 Since treatment was of little benefit once mental deficiency was already present, very few data were available on treatment

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