| Chapter title |
Acylcarnitines: analysis in plasma and whole blood using tandem mass spectrometry.
|
|---|---|
| Chapter number | 3 |
| Book title |
Metabolic Profiling
|
| Published in |
Methods in molecular biology, December 2010
|
| DOI | 10.1007/978-1-61737-985-7_3 |
| Pubmed ID | |
| Book ISBNs |
978-1-61737-984-0, 978-1-61737-985-7
|
| Authors |
Millington DS, Stevens RD, Millington, David S., Stevens, Robert D., David S. Millington, Robert D. Stevens |
| Abstract |
The acylcarnitine profile is a diagnostic test for inherited disorders of fatty acid and branched-chain amino acid catabolism. Patients with this type of metabolic disorder accumulate disease-specific acylcarnitines that correlate with the acyl coenzyme A compounds in the affected mitochondrial metabolic pathways. For example, propionylcarnitine accumulates in patients with both propionic and methylmalonic acidemias. The test identifies and quantifies the species of acylcarnitines in the whole blood or blood plasma of patients at risk for or suspected of having such a disorder. The acylcarnitines are analyzed using electrospray ionization-tandem mass spectrometry. The instrument is used in the precursor ion scan mode to record the molecular species giving rise to fragment ions at m/z 99, derived specifically from the methylated acylcarnitines within the specimen. Quantification is based on the principle of stable isotope dilution, whereby concentrations are derived from the response ratio of each acylcarnitine species to that of a deuterium-labeled acylcarnitine standard. Interpretation of the acylcarnitine profile requires recognition of abnormal concentrations of specific analytes or patterns of analytes and knowledge of their metabolic origin. |
Mendeley readers
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|---|---|---|
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Demographic breakdown
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|---|---|---|
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