A trimethylated amino acid roughly similar in structure to choline, carnitine is a cofactor required for transformation of free long-chain fatty acids into acylcarnitines, and for their subsequent transport into the mitochondrial matrix, where they undergo beta-oxidation for cellular energy production. Mitochondrial fatty acid oxidation is the primary fuel source in heart and skeletal muscle, p...

Isobutyryl-CoA Dehydrogenase Deficiency (IBDD) is an inherited disorder of valine metabolism caused by mutations in ACAD8. Most reported patients have been diagnosed through newborn screening programmes due to elevated C4-carnitine levels and appear clinically asymptomatic. One reported non-screened patient had dilated cardiomyopathy and anaemia at the age of two years. We report a 13 month old...

BACKGROUND AND PURPOSE In some pathological conditions carnitine concentration is high while in others it is low. In both cases,cardiac arrhythmias can occur and lead to sudden cardiac death. It has been proposed that in ischaemia, acylcarnitine (acyl-CAR), but not carnitine, is involved in arrhythmias through modulation of ionic currents. We studied the effects of acyl-CARs on hERG, K(IR)2.1 a...

BACKGROUND Dystrophic epidermolysis bullosa (DEB) is an uncommon genetic disorder of the skin and mucosae. In 1996, we reported the occurrence of lethal dilated cardiomyopathy (DCM) in two affected children. METHODS In the past seven years we have routinely screened patients with severe DEB who have been under the care of this hospital by yearly clinical review, echocardiography, and quantifi...

BACKGROUND L-carnitine was proposed as a potential treatment for patients diagnosed with an autism spectrum disorder to improve mitochondrial dysfunction, but no prior randomized controlled trials have been conducted. MATERIAL/METHODS Thirty subjects diagnosed with an ASD were randomly assigned to receive a standardized regimen (50 mg L-carnitine/kg bodyweight/day) of liquid L-carnitine (n=19...

To determine safety and the efficacy of carnitine treatment in children with attention-deficit hyperactivity disorder (ADHD). The ADHD behavior was observed by parents completing the Child Behavior Checklist (CBCL) and by teachers completing the Conners teacher-rating score, in a randomized, double-blind, placebo-controlled double-crossover trial. In 13/24 boys receiving carnitine, home behavio...

Background: Rhabdomyolysis is frequently observed in patients admitted to the ICU. Rhabdomyolysis-induced myoglobinuric acute renal failure is one of the most common causes of death in this condition. Free radicals and nitric oxide are involved in the pathogenesis of myoglobinuric ARF. Aim of the Study: To study the effect of L-carnitine as an antioxidant on mARF in rats. Methods: Twenty four r...

BACKGROUND The effects of L-carnitine on the hemodynamic state of chronic hemodialysis patients have been debated. In order to clarify the effect of administered L-carnitine on cardiac function and hypotensive episodes during the hemodialysis procedure, a randomized double-blind placebo-controlled study was performed for 3 months. METHODS AND RESULTS TWENTY STABLE OUTPATIENTS UNDERGOING HEMOD...

1. Hardy DT, Preece MA, Green A. Determination of plasma free carnitine by electrospray tandem mass spectrometry. Ann Clin Biochem 2001;38:665– 70. 2. Stevens RD, Hillman SL, Worthy S, Sanders D, Millington DS. Assay for free and total carnitine in human plasma using tandem mass spectrometry. Clin Chem 2000;46:727–9. 3. King R, Bonfiglio R, Fernandez-Metzler C, Miller-Stein C, Olah T. Mechanist...