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Maternal phenylketonuria: successful outcome in four pregnancies treated prior to conception

  • Metabolic Diseases
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Abstract

The management of four pregnancies in two phenylketonuric women is described. A successful outcome in these pregnancies is ascribed to the initiation of treatment prior to conception and the maintenance of tight control with serum phenylalanine between 100 and 400 μmol/l throughout the gestation period. A trial of diet is desirable before a decision is made about pregnancy and before contraception is ceased. Close contact must be maintained with female phenylketonurics throughout their reproductive life to ensure that this process is followed.

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Abbreviations

PKU:

phenylketonuria

Phe:

phenylalanine

Tyr:

tyrosine

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Lynch, B.C., Pitt, D.B., Maddison, T.G. et al. Maternal phenylketonuria: successful outcome in four pregnancies treated prior to conception. Eur J Pediatr 148, 72–75 (1988). https://doi.org/10.1007/BF00441820

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  • DOI: https://doi.org/10.1007/BF00441820

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