Maternal phenylketonuria: an international study.

  title={Maternal phenylketonuria: an international study.},
  author={Richard Koch and William B. Hanley and Harvey L. Levy and Reuben K Matalon and Bobbye M Rouse and Frederick Trefz and Flemming Guttler and Colleen G. Azen and E. Gross Friedman and Lawrence D. Platt and Felix de la Cruz},
  journal={Molecular genetics and metabolism},
  volume={71 1-2},
Maternal phenylketonuria (PKU) syndrome results in multiple congenital anomalies in the offspring, usually consisting of microcephaly, intrauterine growth retardation, dysmorphology, and congenital heart disease. Pregnancies treated preconceptionally with a phenylalanine-restricted diet and control of maternal blood phenylalanine levels within the recommended range result in normal offspring. However, in this 15-year study, several significant factors resulted in microcephaly in 27% of the… CONTINUE READING
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