Mitochondrial fatty acid β-oxidation (FAO) is the major pathway for the degradation of fatty
acids and is essential for maintaining energy homeostasis in the human body. Fatty acids …

Mitochondrial fatty acid oxidation is an essential pathway for energy production, especially
during prolonged fasting and sub-maximal exercise. Long-chain fatty acids are the most …

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 …

The different long-chain fatty acid oxidation defects present with similar heterogeneous
clinical phenotypes of different severity. Organs mainly affected comprise the heart, liver …

Muscle tissue (heart and skeletal) has a high energy demand to perform essential functions
such as ionic homeostasis and contractility. Metabolic fuels for the generation of adenosine …

Abstract Treatment recommendations in mitochondrial fatty acid oxidation (FAO) defects are
diverse. With implementation of newborn screening and identification of asymptomatic …

Membrane-bound mitochondrial trifunctional protein (TFP) catalyzes β-oxidation of long
chain fatty acyl-CoAs, employing 2-enoyl-CoA hydratase (ECH), 3-hydroxyl-CoA …

Background Long-chain fatty acid oxidation disorders (LC-FAOD) lead to accumulation of
high concentrations of potentially toxic fatty acid intermediates. Newborn screening and …

In accordance with their manifold tasks, various dysfunctions of mitochondria are critically
involved in a large number of diseases and the aging process. This has inspired …

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 …