Inborn errors of metabolism are single gene disorders resulting from the defects in the
biochemical pathways of the body. Although these disorders are individually rare …

Background: The failing heart is energy starved with impaired oxidation of long-chain fatty
acids (LCFAs) at the level of reduced CPT1 (carnitine palmitoyltransferase 1) activity at the …

Acylcarnitines are intermediates of fatty acid and amino acid oxidation found in tissues and
body fluids. They are important diagnostic markers for inherited diseases of peroxisomal and …

Improved second‐tier assays are needed to reduce the number of false positives in newborn
screening (NBS) for inherited metabolic disorders including those on the Recommended …

Amino acids and acylcarnitines are important biomarkers of the body's energy state and can
be used as diagnostic markers of certain inborn errors of metabolism. Few multianalyte …

Acylcarnitines are metabolic intermediates of fatty acids and branched-chain amino acids
having vital biofunctions and pathophysiological significances. Here, we developed a high …

Acylcarnitine analysis is a useful test for identifying patients with inborn errors of
mitochondrial fatty acid β-oxidation and certain organic acidemias. Plasma is routinely used …

The biomarkers of Parkinson's disease (PD) remain to be investigated. This work aimed to
identify blood biomarkers for PD using targeted metabolomics analysis. We quantified the …

Carnitines play important roles in fatty acid oxidation and branched chain amino acid
metabolism. The disturbance of acylcarnitines is associated with occurrence and …

Carnitines, essential for human metabolism and fatty acid transport, are primarily obtained
from the diet. Inadequate synthesis or intake can lead to serious metabolic disorders, which …