TY - JOUR
T1 - Phenylketonuria in the General Population
AU - Howell, R. Rodney
PY - 1970/6/25
Y1 - 1970/6/25
N2 - Because phenylketonuria was first recognized among severely retarded persons and their families, the finding of elevated serum phenylalanine concentrations has usually been equated with severe mental retardation. With the advent of the mass screening programs for the detection of hyperphenylalanemia in clinically normal newborn infants, one of the many troublesome questions for which we had no answer was, “Are there large numbers of people in the general population who have high phenylalanine concentrations (that is, with phenylketonuria or PKU) and who are not retarded?” This became an even thornier issue when the frequency of phenylketonuria as detected by the newborn.
AB - Because phenylketonuria was first recognized among severely retarded persons and their families, the finding of elevated serum phenylalanine concentrations has usually been equated with severe mental retardation. With the advent of the mass screening programs for the detection of hyperphenylalanemia in clinically normal newborn infants, one of the many troublesome questions for which we had no answer was, “Are there large numbers of people in the general population who have high phenylalanine concentrations (that is, with phenylketonuria or PKU) and who are not retarded?” This became an even thornier issue when the frequency of phenylketonuria as detected by the newborn.
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U2 - 10.1056/NEJM197006252822611
DO - 10.1056/NEJM197006252822611
M3 - Editorial
C2 - 5419299
AN - SCOPUS:0014962227
VL - 282
SP - 1486
EP - 1488
JO - New England Journal of Medicine
JF - New England Journal of Medicine
SN - 0028-4793
IS - 26
ER -