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January 1967

The Early Treatment of Phenylketonuria

Author Affiliations

From the Division of Clinical Genetics, Department of Medicine, The Children's Hospital Medical Center; Department of Pediatrics, Harvard Medical School (Drs. Kennedy and Wertelecki); and The Massachusetts Department of Public Health (Drs. Cass and Gates), Boston.

Am J Dis Child. 1967;113(1):16-21. doi:10.1001/archpedi.1967.02090160066004

THE DIETARY treatment of phenylketonuria (PKU) was first introduced some 12 years ago. During the first years of this period, the evaluation was clouded by the fact that treated patients were older and often already somewhat retarded. Nutritional requirements for phenylalanine were not clearly understood; low phenylalanine protein hydrolysates were unpalatable. It was only with the introduction of neonatal blood screening of a general newborn population together with the introduction of a more palatable enzymatically hydrolyzed casein preparation that a clearer picture of the results of treatment could be attained. This paper presents the experiences with early treatment of a group of infants diagnosed as having phenylketonuria in the newborn period.

Materials and Methods  The patients for this study are the newborn infants diagnosed as having PKU by blood screening tests1 in Massachusetts since July 1962.2 Nearly all the infants born each year were screened.3 Patients discussed

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