Impact of a Phe-Restricted Diet on Gut Health in Children with PKU
Research type
Research Study
Full title
Impact of a phenylalanine-restricted diet on the microbiota composition and metabolome of children with PKU
IRAS ID
353831
Contact name
Anita MacDonald
Contact email
Sponsor organisation
Birmingham Women's and Children's NHS Foundation Trust
ISRCTN Number
ISRCTN00000000
Clinicaltrials.gov Identifier
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
1 years, 2 months, 31 days
Research summary
Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism. The cornerstone of treatment is a Phe-restricted diet, which aims to prevent neurological sequelae and promote normal growth and development. A subset of milder patients with PKU respond to the synthetic form of tetrahydrobiopterin (BH4), which enables them to follow a less restrictive diet. The role of the gut microbiota in health and disease has been increasingly recognised, with diet being a key factor influencing its composition. Therefore, the aim of this study is to explore the gut microbiota and metabolomics of children with PKU and compare those on BH4 treatment with those exclusively on a Phe-restricted diet and healthy children. This observational study will recruit children with PKU (aged 3-17) attending Birmingham Children's Hospital, who are either on an exclusive Phe-restricted diet (n=30) or taking BH4 (n=30), as well as healthy controls (n=30). Faecal samples will be collected for microbiota analysis through sequencing, alongside metabolite profiling. With this project, we aim to provide novel insights into the gut microbiota composition and metabolomics of children with PKU with different dietary restrictions. These findings could contribute to the development of improved nutritional strategies and protein substitutes specifically designed to support gut health more effectively. Additionally, the study may shed light on the potential benefits of a less restrictive diet (with BH4 supplementation) in restoring a healthier gut microbiota. Ultimately, the results could assist clinicians in making more informed therapeutic decisions and significantly enhance the health and quality of life of patients with PKU. By improving gastrointestinal well-being, this research has the potential to make a meaningful contribution to the overall management of PKU.
REC name
Wales REC 7
REC reference
25/WA/0150
Date of REC Opinion
4 Jun 2025
REC opinion
Further Information Favourable Opinion