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Biology Articles » Biochemistry » An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist » Acylcarnitine and acylglycines

Acylcarnitine and acylglycines
- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist

Analysis of carnitine and glycine esters has become an important part of the investigation of organic acidopathies and disorders of mitochondrial β-oxidation. One of the most important advances in the application of diagnostic laboratory technology has been the introduction of MS-MS for the assay of carnitine profile, which allows the detection of many defects of mitochondrial b-oxidation. Compounds eluted from dried blood spots can be used for analyzing acylcarnitines.

Measuring plasma total carnitine is also helpful in determining the presence of a fatty acid oxidation disorder. All but one is associated with either an increased or decreased concentration of total carnitine in the plasma and tissues. In carnitine transporter defect, plasma carnitine levels are severely decreased (<5% of the normal level). In carnitine palmitoyl transferase-1 (CPT-I) deficiency, total carnitine levels are increased (150-200% of the normal level). In all other defects of fatty acid b-oxidation, total carnitine levels are reduced to 25-50%.

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