MATERNAL PHENYLKETONURIA. A CAUSE OF MENTAL RETARDATION IN CHILDREN WITHOUT THE METABOLIC DEFECT.

Abstract

IT has been demonstrated that excessive phenylalanine, or its products, can damage the developing brain of an otherwise normal young animal or human infant, and clinical studies suggest that the phenylketonuric infant's neurologic damage is acquired. There have been no animal experiments concerning the effect of an abnormally elevated maternal serum phenylalanine level on a developing fetal brain. Furthermore, it is generally considered that persons with phenylketonuria seldom reproduce because of their severe mental retardation. Thus, there have been almost no observations on their offspring.We have recently found 3 elderly phenylketonuric mothers who have had 1, 5 and 8 . . .