The Treatment of Phenylketonuria

Abstract

EXPERIENCE of an interdisciplinary metabolic treatment group at the Children's Hospital, Cincinnati, over a ten-year period has permitted the development of a comprehensive treatment program for phenylketonuria. Details of monitoring methods and dietary treatment have been published.^1,2The results of the evaluation of 27 patients treated are presented. <h3>The Treatment Program</h3> The program is characterized by: 1. Precise and frequent monitoring using microtechniques for serum phenylalanine evaluations and urinary phenylalanine metabolite excretion products. Early in treatment, the parents are taught to collect a finger- or heel-prick blood specimen in capillary hematocrit tubes which are mailed to the metabolic group in prepared kits. Filter paper urine specimens are also collected, dried, and mailed to the laboratory. The early establishment of routine blood collection<i>without venipuncture</i>and urine collection without need for a liquid specimen, enhances the families' cooperation in providing the frequent blood and urine specimens needed to safely and