Professional
Technical
IVT
acylcarnitine profile
Pronunciation: ass-ill-CAR-nih-teen
Laboratory test measuring various acylcarnitines in blood to detect fatty acid oxidation disorders and organic acidurias.
Full Definition
An acylcarnitine profile analyzes the pattern of acylcarnitines in dried blood spots using tandem mass spectrometry. These metabolites serve as biomarkers for inherited disorders affecting fatty acid oxidation and organic acid metabolism. Specific elevation patterns indicate different conditions: elevated C8 suggests medium-chain acyl-CoA dehydrogenase deficiency, while elevated C5OH indicates 3-methylcrotonyl-CoA carboxylase deficiency.
Usage
Usage note: Distinguish from free carnitine measurements in clinical contexts.
In Context
- "The acylcarnitine profile revealed elevated C14:1 consistent with very long-chain acyl-CoA dehydrogenase deficiency." — Biochemical genetics report
- "Second-tier acylcarnitine profile testing reduced false positives by 40%." — Quality improvement study
Also known as
acylcarnitine analysis
carnitine profile
Don't confuse with
amino acid profile
organic acid analysis