Acylcarnitine profile analysis

Abstract

These Technical Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular standard or guidelines was adopted, and to consider other relevant medical and scientific information that becomes available after that date.

Maternal obesity and increased neonatal adiposity correspond with altered infant mesenchymal stem cell metabolism

“…However, there were strong, significant positive correlations between neonatal %FM and accumulation of multiple LCAC (specifically C12, C12:1, C14, C14:1, C14:2, C16:1, C18:2, and total LCAC) and long-chain hydroxy acylcarnitine species (LCOH, specifically C14-OH, C14:1-OH, C16:1-OH, and total LCOH) in the OB, but not NW, group (all P < 0.05, r > 0.60, FDR < 0.05, Figure 2 and Supplemental Table 2). These acylcarnitine signatures have been related to deficiencies in, and are substrates for, the very long-chain acyl-coa dehydrogenase (VLCAD) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) enzymatic steps of β-oxidation (28). Similar increases in LCAC and LCOH have been reported previously in plasma of adults with established obesity, and they serve as biomarkers of incomplete β-oxidation (14,18,29).…”

Metabolomic Profiling Identifies Novel Circulating Biomarkers of Mitochondrial Dysfunction Differentially Elevated in Heart Failure With Preserved Versus Reduced Ejection Fraction: Evidence for Shared Metabolic Impairments in Clinical Heart Failure

“…When elevated, plasma LCAC reflect underlying mitochondrial dysfunction and dysregulated carbohydrate/fatty acid metabolism, which have both been recognized as viable therapeutic targets in HF 52, 56, 59, 60. Similarly, elevated plasma LCAC has been used for decades as a screening measure for genetic deficiencies of FAO enzymes 59.…”

The effects of early postnatal exposure to a low dose of decabromodiphenyl ether (BDE-209) on serum metabolites in male mice

“…Phosphatidylcholine (PC) is hydrolyzed by phospholipase A and/or lecithin-cholesterol acyltransferase to fatty acid and lysophosphatidylcholine (lysoPC) (Rinaldo et al, 2008). Administration of thyroid hormones has been reported to modulate lipid metabolism (Lopez et al, 2010).…”

“…The serum acylcarnitine profile has been reported to inform on specific steps in fatty acid oxidation and amino acid catabolism (Van Hove et al, 1993;Rinaldo et al, 2008). Decrease in long-chain acylcarnitines was observed following dioxin exposure in an in vitro study (Ruiz-Aracama et al, 2011).…”