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
This publication has 16 references indexed in Scilit:
- Projections of a rebound in frequency of mental retardation from phenylketonuriaApplied Research in Mental Retardation, 1982
- Maternal Phenylketonuria and HyperphenylalaninemiaNew England Journal of Medicine, 1980
- Rapid and simplified extraction procedure for gas chromatographic—mass spectrometric profiling of urinary organic acidsJournal of Chromatography B: Biomedical Sciences and Applications, 1978
- Phenylketonuria as a balanced polymorphism: the nature of the heterozygote advantageAnnals of Human Genetics, 1975
- Genetic ScreeningPublished by Springer Nature ,1973
- Maternal phenylketonuria: The composition of cerebral lipids in an affected offspringThe Journal of Pediatrics, 1969
- The incidence of malformations in Birmingham, England, 1950–1959Teratology, 1968
- A Simple Chromatographic Screening Test for the Detection of Disorders of Amino Acid MetabolismNew England Journal of Medicine, 1964
- Maternal PhenylketonuriaNew England Journal of Medicine, 1963
- Automatic Recording Apparatus for Use in Chromatography of Amino AcidsAnalytical Chemistry, 1958