Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

ABSTRACT: Patients with fatty acid oxidation disorders (FAODs) experience muscle symptoms due to impaired ATP metabolism and the toxicity of accumulated mitochondrial FAO substrates or intermediates, especially during catabolic states. A major issue is the absence of specific and sensible biomarkers to evaluate metabolic equilibrium. The relationship between cardiac output (Q) and oxygen consumption (VO₂) during incremental exercise (dQ/dVO₂) provides an indirect surrogate of mitochondrial function. A high dQ/dVO₂ slope indicates impaired oxidative phosphorylation in skeletal muscle during exercise. Our study aimed to evaluate dQ/dVO₂ as a potential marker of the severity of FAODs. We retrospectively collected clinical, laboratory parameters and treatment

SUBMITTER: Imbard A 

PROVIDER: S-EPMC11670292 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature