Abstract
Four cases of variant hyperphenylalaninaemia during pregnancy are presented. Babies born to mothers with blood phenylalanine concentrations of 4–8 mg/dl were normal and did not exhibit significant microcephaly, although one did have a major congenital anomaly (exstrophy of the bladder). The mother with blood phenylalanine concentrations of 6–12 mg/dl during pregnancy delivered three of four infants with mild microcephaly but normal intellectual function. The data suggest that phenylalanine concentrations of 4–8 mg/dl are reasonable and desirable during pregnancy in hyperphenylalaninaemic women. Furthermore, the data do not support or refute the justification hypothesis of Bessmanet al.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bessman, S. P., Williamson, M. L., and Koch, R. Diet, genetics, and mental retardation interaction between phenylketonuric heterozygous mother and fetus to produce nonspecific diminution of IQ: Evidence in support of the justification hypothesis.Proc. Natl. Acad. Sci. USA 74 (1978) 1562–1566
Blaskovics, M. E. and Shaw, K. N. F. Hyperphenylalaninemia: Methods for differential diagnosis. In Bickel, H., Hudson, F. P. and Woolf, L. I. (eds.)Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism. Georg Thieme Verlag, Stuttgart, 1971, pp. 98–102
Fisch, R. O., Walker, W. A. and Anderson, J. A. Prenatal and postnatal developmental consequences of maternal phenylketonuria.Pediatrics 37 (1966) 979–986
Forbes, N. P., Shaw, K. N. F., Koch, R., Coffelt, R. W. and Strauss, R. Maternal phenylketonuria.Nursing Outlook 14 (1966) 40–42
Frankenberg, W. K., Duncan, B. R., Coffelt, R. W., Koch, R., Coldwell, J. G. and Son, C. D. Maternal phenylketonuria: Implications for growth and development.J. Pediatr. 73 (1968) 560–570
Justice, P., O'Flynn, M. E. and Hsia, D. Y. Y. Phenylalaninehydroxylase activity in hyerphenylalaninemia.Lancet 1 (1967) 928–929
Kaufman, S. and Max, E. E. Studies on the phenylalanine hydroxylase system in human liver and their relationship to pathogenesis of PKU and hyperphenylalaninemia. In Bickel, H., Hudson, F. P. and Woolf, L. I. (eds.)Phenylketonuria. Georg Thieme Verlag, Stuttgart, 1971, pp. 13–19
Komrower, G. M., Sardharwalla, I. B., Coutts, J. M. J. and Ingham, D. Management of maternal phenylketonuria: An emerging clinical problem.Br. Med. J. 1 (1979) 1383–1387
Mabry, C. Maternal phenylketonuria. Presented at theMeeting of the Directors of the Collaborative Study for the Treatment of Children with Phenylketonuria. Stateline, Nevada, March 16, 1978
Mabry, C., Denniston, J. C., Nelson, T. L. and Son, C. D. Maternal phenylketonuria.N. Engl. J. Med. 269 (1963) 1505
MacCready, R. A. and Levy, H. L. The problem of maternal phenylketonuria.Am. J. Obstet. Gynecol. 113 (1972) 121–128
Woolf, L. I., Ounsted, D. L., Lee, M., Humphreny, N., Cheshire, N. M. and Steed, G. R. Atypical PKU in sisters with normal offspring.Lancet 2 (1961) 464
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Koch, R., Blaskovics, M. Four cases of hyperphenylalaninaemia: Studies during pregnancy and of the offspring produced. J Inherit Metab Dis 5, 11–15 (1982). https://doi.org/10.1007/BF01799748
Issue Date:
DOI: https://doi.org/10.1007/BF01799748