Mitochondrial β-oxidation of fatty acids generates acetyl-coA, NADH and FADH 2. Acyl-coA
synthetases catalyze the binding of fatty acids to coenzyme A to form fatty acyl-coA …

Inherited defects in mitochondrial fatty-acid beta-oxidation comprise a group of at least 12
diseases characterized by distinct enzyme or transporter deficiencies. Most of these …

Published data on treatment of fatty acid oxidation defects are scarce. Treatment
recommendations have been developed on the basis of observations in 75 patients with …

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

At present, long‐chain fatty acid oxidation (FAO) defects are diagnosed in a number of
countries by newborn screening using tandem mass spectrometry. In the majority of cases# …

Disorders of muscle lipid metabolism may involve intramyocellular triglyceride degradation,
carnitine uptake, long-chain fatty acids mitochondrial transport, or fatty acid β-oxidation …

Inborn errors of mitochondrial fatty acid oxidation (FAO) comprise the most common group of
disorders identified through expanded newborn screening mandated in all 50 states in the …

Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle
tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to …

Fatty acids are a major fuel for the body and fatty acid oxidation is particularly important
during fasting, sustained aerobic exercise and stress. The myocardium and resting skeletal …

Although the retina is thought to primarily rely on glucose for fuel, inherited deficiency of one
or more activities of mitochondrial trifunctional protein results in a pigmentary retinopathy …