l-carnitine is present in mammalian cells as free carnitine and acylcarnitines. The
acylcarnitine profile has been shown to be useful in identifying inborn errors of metabolism …

Mitochondrial fatty acid oxidation (FAO) plays a pivotal role in maintaining body energy
homoeostasis mainly during catabolic states. Oxidation of fatty acids requires approximately …

Micropeptide regulator of β-oxidation (MOXI) is a conserved muscle-enriched protein
encoded by an RNA transcript misannotated as non-coding. MOXI localizes to the inner …

Introduction: Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a disorder of
oxidation of long chain fat, and can present as cardiomyopathy or fasting intolerance in the …

Cells contain limited and sequestered pools of Coenzyme A (CoA) that are essential for
activating carboxylate metabolites. Some acyl-CoA esters have high metabolic and …

Several mouse models for mitochondrial fatty acid β-oxidation (FAO) defects have been
developed. So far, these models have contributed little to our current understanding of the …

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a fatty acid
oxidation disorder (FAOD) caused by a pathogenic variant, c. 1528 G> C, in HADHA …

Mitochondrial fatty acid oxidation provides an important energy source for cellular
metabolism, and decreased mitochondrial fatty acid oxidation has been implicated in the …

Despite judicious monitoring and care, patients with fatty acid oxidation disorders may
experience metabolic decompensation due to infection which may result in rhabdomyolysis …

Mouse models have been designed for a number of fatty acid oxidation defects. Studies in
these mouse models have demonstrated that different pathogenetic mechanisms play a role …