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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.
Purpose:
In the early years of phenylketonuria (PKU) treatment, mothers and healthcare professionals often decide to discontinue breastfeeding after the diagnosis of PKU in infants. It was believed to be the only effective way to monitor the infant's intake and allow for precise titration and measurement of the intake of phenylalanine (Phe). In the early 1980s, with the determination of low concentration of Phe in breast milk, breast milk supplemented with Phe-free formula has become an acceptable dietary treatment for infants with PKU. Today, breastfeeding is encouraged and well established in PKU patients. The aim of the present study is to investigate the prevalence and duration of breastfeeding, the effect of breastfeeding on serum Phe levels, and weight gain in infants with PKU.
Design And Methods:
Data were collected from chart reviews. Medical records of 142 children with PKU diagnosed via the national neonatal screening program were analyzed retrospectively.
Results:
Of the 41 infants with complete medical records, 40 (97.6%) were breastfed following delivery whereas only one (2.4%) was bottle fed. After the diagnosis, breastfeeding was continued in 25 (61%) infants with phenylalanine-free amino acid based protein substitute. The mean duration of breastfeeding was 7.4±4.0 (1-15) months. Serum Phe concentration of breastfed infants (280±163 μmol/L) was significantly lower than non-breastfed infants (490±199 μmol/L) (p<0.001). Mean monthly weight gain in the first year of life was significantly higher in breastfed patients (493±159 g/month) compared to non-breastfed patients (399±116 g/month) (p=0.046).
Conclusion:
In the first year of life, weight gain and serum Phe levels were more favorable in breastfed infants with PKU compared to non-breastfed infants with PKU.
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