Summary
High maternal phenylalanine values carry an indisputably high risk to the fetus. Detailed information on the maternal phenylalanine concentrations required to ensure normal intellectual development in the offspring is not yet available, but preconception diet can greatly reduce major defects of organo-genesis and improve the later intellectual performance. To keep the fetal phenylalanine below 500 µmo1/1 it is necessary to reduce the mother’s phenylalanine below 300 µmol/1, which is a reasonable target. This means reducing the mother’s protein intake to 3–7 exchanges/day in classical severe phenylketonuria (PKU), but increasing tolerance is to be expected from 18–20 weeks. There is uncertainty about optimum amino acid supplementation, but it should probably not be less than 70 g/day. The mother’s phenylalanine should be monitored frequently (twice weekly). Subsequent organised follow-up of the offspring, is vital to the evaluation of outcome.
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Brenton, D.P., Haseler, M.E. (1990). Maternal Phenylketonuria. In: Fernandes, J., Saudubray, JM., Tada, K. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02613-7_14
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DOI: https://doi.org/10.1007/978-3-662-02613-7_14
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