The Effects of Breastfeeding in Infants With Phenylketonuria

Engin Kose1, Betul Aksoy2, Pinar Kuyum2

  • 1Dokuz Eylul University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Izmir, Turkey.

Insights

Breastfeeding is beneficial for infants with phenylketonuria (PKU), leading to lower phenylalanine (Phe) levels and better weight gain. Continued breastfeeding with specialized formula supports healthy development in PKU patients.

Area of Science:

  • Metabolic Disorders
  • Pediatric Nutrition
  • Lactation Studies

Background:

  • Historically, breastfeeding was discouraged for infants with phenylketonuria (PKU) due to concerns about phenylalanine (Phe) intake management.
  • Advances in understanding Phe levels in breast milk and development of Phe-free formulas have made breastfeeding a viable option for PKU management.
  • Current practices encourage breastfeeding for infants diagnosed with PKU.

Purpose of the Study:

  • To determine the prevalence and duration of breastfeeding in infants with PKU.
  • To evaluate the impact of breastfeeding on serum Phe levels in infants with PKU.
  • To assess the effect of breastfeeding on infant weight gain in the first year of life for PKU patients.

Main Methods:

  • Retrospective analysis of medical records from 142 infants diagnosed with PKU via the national screening program.
  • Data collection through chart reviews.
  • Comparison of outcomes between breastfed and non-breastfed infants with PKU.

Main Results:

  • A high prevalence of breastfeeding (97.6%) was observed post-delivery, with 61% continuing after PKU diagnosis and initiation of Phe-free formula.
  • The mean duration of breastfeeding was 7.4 months.
  • Breastfed infants had significantly lower serum Phe levels (280±163 μmol/L vs. 490±199 μmol/L) and higher mean monthly weight gain (493±159 g/month vs. 399±116 g/month) compared to non-breastfed infants.

Conclusions:

  • Breastfeeding is associated with more favorable serum Phe levels in infants with PKU.
  • Breastfeeding positively impacts weight gain during the first year of life for infants with PKU.
  • Current dietary management strategies support breastfeeding for infants with PKU, promoting better health outcomes.
Abstract

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