Gastrointestinal symptoms in patients with PKU
Research type
Research Study
Full title
Gastrointestinal symptoms in patients with PKU: how do they impact on the daily lives of people with PKU?
IRAS ID
365425
Contact name
Anita MacDonald
Contact email
Sponsor organisation
Birmingham Women's and Children's NHS Foundation Trust
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
0 years, 6 months, 1 days
Research summary
Phenylketonuria (PKU) requires lifelong dietary management. While neurocognitive outcomes have been studied extensively, other health burdens in PKU are less well explored. Emerging data suggest that gastrointestinal (GI) symptoms are common in PKU and may be linked to dietary treatment and the use of amino acid-based protein substitutes. One UK survey reported GI problems in 34% of patients, and a randomised controlled trial in children showed that constipation and other GI symptoms were more frequent with L-amino acid-based substitutes but improved with glycomacropeptide-based products. However, there is currently limited systematic information on the types, severity and management of GI symptoms in UK clinical practice.
We will conduct an online survey to characterise GI symptoms in patients with PKU. A Microsoft Forms questionnaire will be distributed to adults with PKU and caregivers of children via The National Society for Phenylketonuria UK (NSPKU) channels and NHS metabolic dietitian networks. The survey will be piloted, remain open for 3 months, and aims to collect ≥200 responses. Findings will inform guidance on monitoring GI symptoms and optimising dietary strategies, and will be submitted for peer-reviewed open-access publication.REC name
South Central - Berkshire B Research Ethics Committee
REC reference
26/SC/0014
Date of REC Opinion
30 Jan 2026
REC opinion
Further Information Favourable Opinion