PHENYLKETONURIA - EVALUATION OF THERAPY AND VERIFICATION OF DIAGNOSIS

Twelve patients were studied who had been placed on a low-phenylalanine diet before 2 months of age because of hyperphenylalaninemia. The failure of tyrosine blood levels to rise significantly after a phenylalanine load was considered confirmation of the diagnosis of phenylketonuria. The height of each of the 12 patients was less than the fiftieth percentile and 3 were under the third percentile. The failure to thrive was correlated with a plasma phenylalanine level below 3 mg. per 100 ml. One child developed the phenylalanine deficiency syndrome. © 1968 The C. V. Mosby Company.