Dietary management and outcome of patients with Citrin deficiency
Research type
Research Study
Full title
Dietary management, clinical status and outcome of patients with Citrin deficiency in the UK
IRAS ID
233728
Contact name
Anita MacDonald
Contact email
Sponsor organisation
Birmingham Women's and Children's Hospital
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Citrin deficiency is a rare inherited metabolic condition which causes diverse clinical symptoms at any age from infancy to adulthood. It is treated by a special diet but liver transplant is an option for older patients with poor metabolic control. Optimal dietary treatment is unknown and dietary treatments are diverse. Sugar and carbohydrate restriction is commonly advised but protein and a special fat (medium chain triglyceride [MCT] oil) supplementation is sometimes given. In illness a dietary emergency feeding plan is recommended but there is no consensus about its composition. We have identified 29 UK patients with citrin deficiency from 9 UK centres. We would like to apply to collect retrospective data about medical history, diet therapy and clinical outcome of each patient to provide data to help standardise UK dietary approach to citrin deficiency management.
REC name
West Midlands - Solihull Research Ethics Committee
REC reference
17/WM/0410
Date of REC Opinion
21 Dec 2017
REC opinion
Further Information Favourable Opinion