Related Experiment Video
Updated: Jul 13, 2025
Assessment of the Efficacy of An Osteopathic Treatment in Infants with Biomechanical Impairments to Suckling
Published on: February 5, 2019
Breast feeding in infants diagnosed with phenylketonuria (PKU): a scoping review
Jahnavi Kalvala1,2, Lydia Chong1,2, Neil Chadborn1,3
1School of Medicine, University of Nottingham, Nottingham, UK.
Insights
Breastfeeding is safe and potentially beneficial for infants with phenylketonuria (PKU), an inherited metabolic disorder. Evidence suggests it may lead to normal phenylalanine levels and improved developmental scores.
Area of Science:
- Metabolic Disorders
- Pediatric Nutrition
- Genetics
Background:
- Phenylketonuria (PKU) is a common inherited metabolic disorder characterized by high phenylalanine levels.
- Infant feeding guidance for PKU is limited.
- European guidelines recommend breastfeeding for infants, including those with PKU, despite variable phenylalanine content in human milk.
Purpose of the Study:
- To evaluate the impact of breastfeeding (exclusive or partial) versus low-phenylalanine formula on blood phenylalanine levels, growth, and neurodevelopment in infants with PKU.
Main Methods:
- Searched Cochrane Inborn Errors of Metabolism Trials Register, MEDLINE, and Embase up to August 9, 2022.
- Included observational studies comparing breastfeeding with low-phenylalanine formula feeding in infants with PKU.
- Assessed blood phenylalanine levels, growth (first 2 years), and neurodevelopmental scores.
Main Results:
- Seven observational studies (282 participants) were included.
- Most studies found no significant difference in mean serum phenylalanine levels, but two indicated higher rates of normal levels in breastfed infants.
- Weight gain showed no consistent difference, though one study reported higher gain in breastfed infants.
- Two studies reported better developmental scores in breastfed infants.
Conclusions:
- While randomized trials are lacking, observational data suggest breastfeeding continuation with low-phenylalanine formula is safe for PKU infants.
- Breastfeeding may offer benefits, including potentially improved phenylalanine control and neurodevelopmental outcomes.
Background:
Phenylketonuria (PKU) is the most common inherited disease of amino acid metabolism, characterised by elevated levels of phenylalanine (Phe). There is a lack of infant feeding guidance for those with PKU. From birth to 6 months of age, breast feeding is the optimal nutrition for an infant and continuing breast feeding for infants with PKU is recommended by European guidelines. However, human breast milk contains Phe in varying quantities, and therefore, the effects breast feeding might have on infants with PKU needs careful consideration.
Aim:
To assess the effects of breast feeding (exclusive or partial) compared with low-Phe formula feeding in infants diagnosed with PKU, on blood Phe levels, growth and neurodevelopmental scores.
Methods:
The Cochrane Inborn Errors of Metabolism Trials Register, MEDLINE and Embase were searched (date of latest search: 9 August 2022). Studies were included if they looked at the effects of breast feeding in infants diagnosed with PKU compared with formula feeding. Predetermined outcomes included blood Phe levels, growth in the first 2 years of life and neurodevelopmental scores.
Results:
Seven observational studies (282 participants) met the inclusion criteria. All studies compared continuation of breast feeding with low-Phe formula versus formula feeding only. While most studies concluded that there was no difference in mean serum Phe levels in their follow-up period, two reported that breastfed infants were more likely to have a normal mean Phe level. Two studies described no difference in mean weight gain after birth, while one found that breastfed infants were more likely to have higher mean weight gain. Two studies commented that breastfed infants achieved higher developmental scores in childhood as compared with formula fed infants.
Conclusion:
Although there are no randomised trials, observational evidence suggests that continuation of breast feeding and supplementation with low-Phe formula is safe and may be beneficial for infants diagnosed with PKU.
More Related Videos
Related Concept Videos
01:20Inborn Errors of Metabolism
01:21Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
01:27Parentral Nutrition: Centeral and Peripheral Parental Nutrition
PN can be administered through two primary routes:
1. Central Parenteral Nutrition (CPN):
CPN involves delivering a high concentration of nutrients through a large vein. This is typically achieved using a Peripherally Inserted Central Catheter (PICC) or,...
01:15Enteral Nutrition II: Nasointestinal and Gastrostomy Feeding
Nasointestinal Feeding
Nasointestinal feeding involves placing a tube...
01:28Chronic Kidney Disease III: Interprofessional Care