acylcarnitine profile
Pronunciation: /əˌsaɪlˈkɑrnɪˌtin/
Pattern of acylcarnitine species measured to detect fatty acid oxidation and organic acid disorders.
Full Definition
An acylcarnitine profile is the pattern of different acylcarnitine species measured in dried blood spots using tandem mass spectrometry. Carnitine combines with various fatty acids and organic acids, and abnormal patterns of these compounds can indicate specific metabolic disorders. The profile includes measurements of free carnitine and numerous acylcarnitine species of different chain lengths, with characteristic elevations helping diagnose conditions like MCAD deficiency or propionic acidemia.
Usage
Usage note: Do not hyphenate when used as a compound noun.
In Context
- "The acylcarnitine profile showed elevated C8 and C10 species consistent with MCAD deficiency." — laboratory interpretation
- "Acylcarnitine profile abnormalities can indicate various fatty acid oxidation disorders." — educational material