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Breastfeeding in infants diagnosed with Phenylketonuria (PKU): a scoping review

Kalvala, Jahnavi; Chong, Lydia; Chadborn, Neil; Ojha, Shalini

Authors

Jahnavi Kalvala

Lydia Chong

SHALINI OJHA Shalini.Ojha@nottingham.ac.uk
Professor of Neonatal Medicine



Abstract

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.

Journal Article Type Article
Acceptance Date Aug 18, 2023
Online Publication Date Oct 12, 2023
Publication Date 2023
Deposit Date Sep 7, 2023
Publicly Available Date Oct 12, 2023
Journal BMJ Paediatrics Open
Electronic ISSN 2399-9772
Publisher BMJ Publishing Group
Peer Reviewed Peer Reviewed
Volume 7
Issue 1
Article Number e002066
DOI https://doi.org/10.1136/bmjpo-2023-002066
Keywords phenylketonuria, breastfeeding, infant
Public URL https://nottingham-repository.worktribe.com/output/25070517
Publisher URL https://bmjpaedsopen.bmj.com/content/7/1/e002066