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June 1962

Phenylketonuric Families in Washington State: A Survey

Author Affiliations

Robert W. Deisher, M.D., Department of Pediatrics, University of Washington, School of Medicine, Seattle 5, Wash.; Washington State Department of Health (Dr. Balkany).; Department of Pediatrics, University of Washington, School of Medicine.

Am J Dis Child. 1962;103(6):818-821. doi:10.1001/archpedi.1962.02080020835012

Purpose  A joint study was initiated by the Washington State Department of Health and the University of Washington Department of Pediatrics to reduce the unnecessary occurrence of mental deficiency resulting from untreated cases of phenylketonuria (PKU) recurring in the same family.An attempt was made to contact all families within the state known to have had phenylketonuric children and to alert them regarding the possibility of other children having the disease. Information was provided regarding the need for early diagnosis and the beneficial effects of early dietary management.

Introduction  Phenylketonuria is a recessively inherited metabolic disorder in which the afflicted patient fails to produce the hepatic enzyme, phenylalanine hydroxylase, needed to transform phenylalanine to tyrosine. The disease is characterized by high phenylalanine blood levels and the presence of phenylketones in the urine. It is believed that the high blood levels of phenylalanine and its subsequent breakdown products in the blood