Fatty acid oxidation disorders are a group of inborn errors of metabolism that either affect the transport of fatty acids or their mitochondrial β-oxidation. As a consequence, fatty acids cannot be used as an appropriate energetic source during prolonged fasting, exercise or other catabolic states. The clinical phenotype is heterogeneous with different organ involvement and asymptomatic presentations since implementation of newborn screening.
Our research has identified how disease phenotypes are modified by life style, sports and diet. Nevertheless, early risk stratification is essential to implement targeted preventive and treatment measures.
Deciphering the effects of monogenic diseases on metabolic networks elucidates our understanding of disease pathophysiology. In fatty acid oxidation disorders, targeted metabolomics has identified endogenous compensatory mechanisms through activation of other energy producing pathways. Metabolomics (including via our metabolomics core facility, MetaboCF) as well as computational modelling in collaboration with the University of Groningen allow the identification of new treatment targets.
Our working group coordinates the new international guideline on the diagnosis and management of long-chain fatty acid oxidation disorders which will be released soon.