FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Volume 309:1269-1274 November 24, 1983 Number 21 Next

	Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

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 less than 0.001) and maternal blood phenylalanine level (r = 0.82, P less than 0.001), but with one exception, mental retardation in offspring was present only when the maternal blood phenylalanine level exceeded 1100 mumol per liter (18 mg per deciliter). Microcephaly in offspring was consistently present only when the maternal blood phenylalanine level exceeded 1200 mumol per liter (20 mg per deciliter). Congenital heart disease and other congenital anomalies were rare among offspring. The data suggest that severe atypical or classic phenylketonuria (blood phenylalanine level, greater than 1100 mumol 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.

This article has been cited by other articles:

• Levy, H. L. (2003). Historical Background for the Maternal PKU Syndrome. Pediatrics 112: 1516-1518 [Abstract] [Full Text]  
• Widaman, K. F., Azen, C. (2003). Relation of Prenatal Phenylalanine Exposure to Infant and Childhood Cognitive Outcomes: Results From the International Maternal PKU Collaborative Study. Pediatrics 112: 1537-1543 [Abstract] [Full Text]  
• Levy, H. L., Waisbren, S. E., Guttler, F., Hanley, W. B., Matalon, R., Rouse, B., Trefz, F. K., de la Cruz, F., Azen, C. G., Koch, R. (2003). Pregnancy Experiences in the Woman With Mild Hyperphenylalaninemia. Pediatrics 112: 1548-1552 [Abstract] [Full Text]  
• Lacey, D. J., Terplan, K. (1987). Abnormal Cerebral Cortical Neurons in a Child With Maternal PKU Syndrome. J Child Neurol 2: 201-204 [Abstract]