Effects of Untreated Maternal Phenylketonuria and Hyperphenylalaninemia on the Fetus
- 24 November 1983
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 309 (21) , 1269-1274
- https://doi.org/10.1056/nejm198311243092101
Abstract
We studied the effects of maternal phenylketonuria and hyperphenylalaninemia on 53 offspring from untreated pregnancies in 22 mothers who were identified by routine screening of umbilical-cord blood. The IQ of the offspring was significantly correlated with both maternal IQ (r = 0.83, P<0.001) and maternal blood phenylalanine level (r = -0.82, P1100 μmol per liter) in the mother has a substantial cognitive effect on her offspring but that the effect of mild hyperphenylalaninemia may have been overstated in the past. (N Engl J Med 1983; 309: 1269–74.)Keywords
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