Conclusion
It is clear from the preliminary data that major malformations, i.e. intrauterine growth retardation, microcephaly and cardiac defects, tend to decrease in frequency as the blood phenylalanine level drops, but not enough to suggest that phenylalanine levels of 600µmol/L are safe levels. The facial dysmorphic features may be used as a sensitive indicator that blood phenylalanine levels should be below 360µmol/L. It is hoped that at the end of the collaborative study more data will be available to suggest blood phenylalanine levels which will prevent the deleterious effects of maternal PKU syndrome.
This is a preview of subscription content, log in via an institution to check access.
References
Dent, C. E. Relation of biochemical abnormality to development of mental defect in phenylketonuria.Report of 23rd Ross Pediatr. Res. Conf. Ross Laboratories, Columbus, Ohio, 1957, p.32
Lenke, R. R. and Levy, H. L. Maternal phenylketonuria and hyperphenylalaninemia.N. Engl. J. Med. 303 (1980) 1202–1208
Mabry, C. C., Denniston, J. C., Nelson, T. L. and Choon, D. S. Maternal phenylketonuria: a cause of mental retardation in children without the metabolic defect.N. Engl. J. Med. 269 (1963) 1404–1408
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Rouse, B., Lockhart, L., Matalon, R. et al. Maternal phenylketonuria pregnancy outcome: a preliminary report of facial dysmorphology and major malformations. J Inherit Metab Dis 13, 289–291 (1990). https://doi.org/10.1007/BF01799376
Issue Date:
DOI: https://doi.org/10.1007/BF01799376