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

ABSTRACT:

Background

Monogenetic inborn errors of metabolism cause a wide phenotypic heterogeneity that may even differ between family members carrying the same genetic variant. Computational modelling of metabolic networks may identify putative sources of this inter-patient heterogeneity. Here, we mainly focus on medium-chain acyl-CoA dehydrogenase deficiency (MCADD), the most common inborn error of the mitochondrial fatty acid oxidation (mFAO). It is an enigma why some MCADD patients-if untreated-are at risk to develop severe metabolic decompensations, whereas others remain asymptomatic throughout life. We hypothesised that an ability to maintain an increased free mitochondrial CoA (CoASH) and pathway flux might distinguish asymptomatic from symptomatic patients.

Results

We built an

SUBMITTER: Odendaal C 

PROVIDER: S-EPMC10478272 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature