However, several pre-analytical and analytical pitfalls must be considered when interpreting acylcarnitine profiles. Download chapter PDF Introduction Carnitine and its esters are physiologically present in all biological fluids, but carnitine is most abundant in tissues with high energy requirements, particularly skeletal and cardiac muscle. The following disorders are detectable by acylcarnitine analysis. However, further confirmatory testing is required for most of these conditions because an acylcarnitine profile can be suggestive of more than one condition. Fatty Acid Oxidation Disorders:-Carnitine palmitoyltransferase I deficiency-Medium-chain 3-ketoacyl-CoA thiolase deficiency Results of acylcarnitine profiling should be interpreted in the context of clinical presentation as well as other laboratory tests, which may include urine organic acid analysis and molecular testing. This test was developed, and its performance characteristics determined, by LabCorp. Acetyl-L-carnitine | C9H17NO4 | CID 7045767 - structure, chemical names, physical and chemical properties, classification, patents, literature, biological activities Carnitine and acylcarnitine derivatives play important roles in fatty. Patients with beta-thalassemia major (BTM) suffer from fatigue, poor physical fitness, muscle weakness, lethargy, and cardiac complications which are related to an energy crisis. Carnitine and acylcarnitine derivatives play important roles in fatty Download Free PDF The acylcarnitine profile is a diagnostic test for inherited disorders of fatty acid and branched-chain amino acid catabolism. Patients with this type of metabolic disorder accumulate disease-specific acylcarnitines that correlate with the acyl coenzyme A compounds in the affected mitochondrial metabolic pathways. Carnitine (beta-hydroxy-gamma-trimethylammonium butyrate) is an indispensable water-soluble molecule derived from amino acids.[1][2] In non-vegetarians, dietary intake is the primary source of carnitine and accounts for almost three-fourths of the total body stores.[3] The main dietary source of carnitine is red meat, poultry, and dairy products.[4] The bioavailability of dietary carnitine is View PDF; Download Full Issue; Journal of Affective Disorders. Volume 264, 1 March 2020, could be differentiated based on acylcarnitine profiles at baseline, These approaches may help to develop a metabolomic profile or 'metabotype' or 'potential biomarkers' of MDD patients, Acylcarnitine, Plasma - Elevation of one or more acylcarnitines is diagnostic for an organic aciduria or a fatty disorder. A low carnitine level may mask a disease state. Test Resources None found for this test Please visit our Clinical Education Center to stay informed on any future publications, webinars, or other education opportunities. It is known that acylcarnitine concentration in the heart and blood plasma varies depending on the nutritional state, fed or fasted. The aim of the present study was to compare the concentration of short-chain (C2-C5), medium-chain (C6-C12) and long-chain (C14-C18) acylcarnitines in fed and fasted states in rat brain structures: cerebellum, cortex and hypothalamus. Acylcarnitine profile analysis Authors: Piero Rinaldo Tina Cowan Stanford Medicine Dietrich Matern Abstract These Technical Standards and Guidelines were developed primarily as an educational Acylcarnitine analysis is, however, still indicated, as some uncommon causes of these presentations may show diagnos-tic clues f