Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.

Christoff OdendaalEmmalie A JagerAnne-Claire M F MartinesMarcel A Vieira-LaraNicolette C A HuijkmanLigia A KiyunaAlbert GerdingJustina C WoltersRebecca Heiner-FokkemaKaren van EunenTerry G J DerksBarbara M Bakker

Published in: BMC biology (2023)

We present a detailed, validated kinetic model of mFAO in human liver, with solubility-dependent metabolite partitioning. Personalised modelling of individual patients provides a novel explanation for phenotypic heterogeneity among MCADD patients. Further development of personalised metabolic models is a promising direction to improve individualised risk assessment, management and monitoring for inborn errors of metabolism.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
prognostic factors
emergency department
single cell
climate change