Abstract
By November 1994, 39 pregnancies had been completed in phenylketonuric mothers. Dietary control was post-conception in 6 and 2 of these offspring died of congenital heart disease and 1 other needed surgery for coarctation. There were no heart defects in the 34 offspring of the 33 pregnancies following preconception diet controlled by Guthrie assays of maternal phenylalanine three (Phe) weekly. These Phe results were analysed by trimester for the means, the number of days over 300 µmol/1 or below 60 µmol/1. Generally good control was achieved suggesting the UK guidelines drawn up by the MRC Working Party are broadly achievable but excessively high and low values occur intermittently in many pregnancies both of which may adversely affect the fetus. Though developmental assessment scores at 1 year were over 100 in all but five, early outcome results suggest that intellectual development may still be impaired at 4 years. Until much more information is available caution is still needed in discussing outcome with phenylketonuria patients who wish to conceive.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
Abbreviations
- Phe :
-
phenylalanine
- PKU :
-
phenylketonuria
References
Brenton DP, Lorek A, Baudin J, Stewart A (1994) Maternal phenylketonuria: preconception dietary control and outcome. Int Paediatr 9: Supplement 2: 5–10
Lenke RL, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninaemia. N Engl J Med 303:1202–1208
Naughten WE, Saul IP (1990) Maternal phenylketonuria: the Irish experience. J Inherited Metab Dis 13:658–664
Report of Medical Research Council Working Party on Phenylketonuria (1993) Recommendations on the dietary management of phenylketonuria. Arch Dis Child 68:426–427
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Brenton, D.P., Lilburn, M. Maternal phenylketonuria. Eur J Pediatr 155 (Suppl 1), S177–S180 (1996). https://doi.org/10.1007/PL00014242
Issue Date:
DOI: https://doi.org/10.1007/PL00014242