Phenylketonuria without Mental Retardation

Abstract

Mental retardation has been generally considered a sine qua non of phenylketonuria (phenylpyruvic oligophrenia) but recent reports have described normal intelligence in some children so afflicted.1,2 It is the purpose of this letter to report an untreated child with phenylketonuria and above-normal intelligence. See table in the PDF file The patient, a 3½-year-old white boy, was the product of a normal pregnancy, delivery and neonatal period. His birth weight was 3,263 gm. Growth and development were normal, and at 2½ years he weighed 12.8 kg and was 91 cm tall.