BMC Nutr. 2025 Nov 14;11(1):213. doi: 10.1186/s40795-025-01209-9.
ABSTRACT
BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of ß-oxidation. A loss of enzyme function results in impaired breakdown of medium-chain fatty acids. The main treatment involves a dietetic approach to ensure adequate food intake and avoiding fasting. Diseases treated with a strict diet during childhood are often associated with eating problems. However, research in this area is very limited. This exploratory observational study aimed to examine the effects of dietary management and the underlying recommendations for MCADD on eating behaviour, as well as their subsequent impact on family life.
METHODS: Paediatric and young adult patients (age 8-25) with MCADD and their caregivers at the University Hospital Muenster were included. A descriptive semi-quantitative study design incorporating qualitative elements was chosen. A novel combination of questions from validated questionnaires on eating behaviour was used to collect quantitative and qualitative data. Data were collected via a combination of telephone interviews and online surveys.
RESULTS: Of the 28 patients contacted, 13 (46%) were successfully recruited into the study. The results showed that most of the study participants did not exhibit abnormal eating behaviour. Additionally, the patients did not show an increased prevalence of being overweight at the time of data collection. A higher temporary tendency to be overweight was only observed when considering the overall weight trend. Dietary interventions placed a higher burden on family life in infancy (0-4 years) than at the time of the survey. Maintaining a safe fasting interval was the main reason for restrictions in family life.
CONCLUSION: This observational and exploratory sample showed no tendency towards abnormal eating behaviour associated with dietary management in MCADD.
PMID:41239521 | DOI:10.1186/s40795-025-01209-9
