Since the identification of the first disorder of mitochondrial fatty acid oxidation defects
(FAOD) in 1973, more than 20 defects have been identified. Although there are some …

Skeletal muscle is a dynamic organ requiring tight regulation of energy metabolism in order
to provide bursts of energy for effective function. Several inborn errors of muscle energy …

Objective To develop an updated staging system for long-chain 3-hydroxyacyl coenzyme A
dehydrogenase deficiency (LCHADD) chorioretinopathy based on contemporary multimodal …

Aims Heart failure in adults is characterized by reduction of long‐chain fatty acid oxidation in
favour of carbohydrate metabolism. This adaptive phenomenon becomes maladaptive …

Oxidative phosphorylation (OXPHOS) and fatty acid oxidation (FAO) are key bioenergetics
pathways. The machineries for both processes are localized in mitochondria. Secondary …

Objective This study aims to elucidate the long‐term benefit of newborn screening (NBS) for
individuals with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase (LCHAD) and …

Background Mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects
are a group of inherited metabolic diseases. We performed a retrospective cohort study to …

Background Fatty acid oxidation defects are rare autosomal recessive disorders with
variable clinical manifestations and outcome. Early detection by systematic neonatal …

Abstract Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare
mitochondrial disease characterized by lipid oxidation disorder. It is an autosomal recessive …

Background Introduction Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
(LCHADD) and Trifunctional Protein Deficiency (TFPD) are both long-chain fatty acid …