Malnutrition with early treatment of phenylketonuria

Abstract

Thirty-two children with phenylketonuria in whom dietary therapy was started prior to 6 months of age are reviewed. Evidence of profound malnutrition during year 1 of life, demonstrated by deficient growth, anemia, hypoproteinemia, roentgenographic bone changes, and various clinical symptoms, was found in three patients. In two of these patients, the malnutrition was quickly corrected; present intelligence levels in these patients are dull normal. The third patient, however, suffered prolonged malnutrition and the present IQ, is only 50. Signs of less severe but prolonged malnutrition were found in 16 patients with phenylketonuria despite apparently adequate diets and adequate levels of phenylalanine in serum. Three of these are retarded, five are borderline, six are in the dull normal intelligence range, and two are normal. In 13 recently diagnosed cases of phenylketonuria, more liberal amounts of phenylalanine and protein were given that resulted in moderate elevation of phenylalanine levels in serum. No evidence of malnutrition was found in these children and present IQ, tests showed that none was testing retarded or borderline; four were rated as dull normal and nine were normal. © 1970 International Pediatric Research Foundation, Inc.