Case presentation: A.B.P., 5 years and 1 month, female, born at term, APGAR 9/10, manifested neuropsychomotor development (NPMD) delay 8 months and, year 3 months, after a fever, she had her first epileptic seizure, with generalized tremor. Since then, has shown regression of NPMD milestones, self-aggression swallowing difficulties. The seizures persisted, occurring up to 6 times day, tonic-clo...

Objective: There are controversial reports about biological effects of the Melia Azedarach Linn. (MA). In the present study, the effect of MA fruit extract on lipid profile, cardiac and hepatic functions of diabetic rats was investigated. Materials and Methods: Thirty male Wistar rats were divided into five groups. Group 1 as the control group, Group 2 as the diabetic group, Group 3 and 4 as t...

PURPOSE Pharmacokinetics and effects on skeletal muscle and physical performance of oral acetylcarnitine and propionylcarnitine are not well characterized. We therefore investigated the influence of oral acetylcarnitine, propionylcarnitine, and carnitine on body carnitine homeostasis, energy metabolism, and physical performance in mice and compared the findings to non-supplemented control anima...

BACKGROUND The number of patients with mitochondrial fatty acid oxidation (FAO) disorders is recently becoming larger with the spread of newborn mass screening. Despite the advances in metabolic and molecular characterization of FAO disorders, the therapeutic studies are still limited. It was reported recently that bezafibrate (BEZ), an agonist of peroxisome proliferating activator receptor (PP...

Fatty acid oxidation (FAO) disorders represent a frequently misdiagnosed group of inborn errors of metabolism. Some patients die at the first episode of fasting intolerance and, if appropriate investigations are not undertaken, often meet the criteria of sudden infant death syndrome (SIDS). To expand existing protocols for the postmortem diagnosis of FAO and other metabolic disorders, we tested...

BACKGROUND Antiretroviral drugs (ARV), specifically nucleoside analogs, are toxic to mitochondrial oxidative phosphorylation. Other metabolic pathways, such as fatty acid oxidation, organic acid metabolism and amino acid metabolism, are dependent on normal oxidative phosphorylation but remain unexamined as potential points of ARV toxicity. METHODS We analyzed newborn screening data from New Y...

BACKGROUND Newborn screening for medium- and very long-chain acyl-CoA dehydrogenase (MCAD and VLCAD, respectively) deficiency, using acylcarnitine profiling with tandem mass spectrometry, has increased the number of patients with fatty acid oxidation disorders due to the identification of additional milder, and so far silent, phenotypes. However, especially for VLCADD, the acylcarnitine profile...

BackgroundNonsteroidal anti-inflammatory drug–exacerbated respiratory disease (N-ERD) is a chronic inflammatory condition, which driven by an aberrant arachidonic acid metabolism. Macrophages are major producers of metabolites and subject to metabolic reprogramming, but they have been neglected in N-ERD.ObjectiveThis study sought elucidate potential epigenetic macrophage reprogramming N-ERD.Met...