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Nutrition and reproductive outcome in maternal phenylketonuria

K Michals1, P B Acosta, V Austin

  • 1College of Health, Florida International University, Miami 33199, USA.

Insights

Maternal weight gain and nutrient intake significantly impact pregnancy outcomes in women with phenylketonuria (PKU). Optimal management requires considering these factors alongside phenylalanine (Phe) control.

Area of Science:

  • Biochemistry
  • Maternal-Fetal Medicine
  • Nutritional Science

Background:

  • Phenylketonuria (PKU) requires careful management during pregnancy.
  • Elevated maternal plasma phenylalanine (Phe) concentrations can negatively affect fetal development.
  • The Maternal PKU Collaborative Study investigated factors influencing reproductive outcomes.

Purpose of the Study:

  • To correlate maternal weight gain and nutrient intake with plasma Phe levels and reproductive outcomes in pregnant women with PKU.
  • To identify key nutritional and metabolic factors influencing fetal development and birth parameters.

Main Methods:

  • Analysis of data from 150 and 142 subjects for plasma Phe concentrations and reproductive outcomes, respectively.
  • Correlation of daily protein intake with plasma Phe levels.
  • Assessment of maternal weight gain as a percentage of recommended gain.
  • Evaluation of first-trimester nutrient intakes (fat, calcium, phosphorus, vitamin A, folate) in relation to reproductive success.

Main Results:

  • Daily protein intake showed a negative correlation with maternal plasma Phe concentration.
  • Longer time for maternal plasma Phe to normalize below 600 mumol/l negatively impacted offspring birth length, weight, and head circumference.
  • Maternal weight gain percentage positively influenced offspring birth parameters.
  • Higher maternal protein and energy intake correlated with increased birth weight and length.
  • Women with good reproductive outcomes had significantly greater first-trimester intakes of fat, calcium, phosphorus, vitamin A, and folate compared to those with poor outcomes.

Conclusions:

  • Maternal weight gain and specific nutrient intakes are crucial alongside plasma Phe control in managing pregnant women with PKU.
  • Comprehensive management strategies should integrate dietary counseling and weight monitoring for optimal pregnancy outcomes in PKU.
  • Nutritional interventions targeting protein, energy, fat, calcium, phosphorus, vitamin A, and folate are vital for successful PKU pregnancy management.

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