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Acylcarnitine analysis by tandem mass spectrometry
Emily H Smith1, Dietrich Matern
1Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Acylcarnitine analysis detects over 20 inborn errors of metabolism affecting fatty acid metabolism. This method aids in diagnosing and monitoring treatment for these critical metabolic disorders.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Analytical Chemistry
Background:
- Carnitine is crucial for fatty acid metabolism and regulating coenzyme A levels.
- Acylcarnitine accumulation indicates inborn errors of metabolism, including organic acidemias and fatty acid oxidation disorders.
- Monitoring acylcarnitine levels aids in managing treatment for affected individuals.
Purpose of the Study:
- To describe protocols for measuring acylcarnitine species in biological samples.
- To establish a sensitive method for detecting inborn errors of metabolism.
- To support the monitoring of treatment efficacy.
Main Methods:
- Analysis of acylcarnitine species in plasma, dried blood spots, bile spots, and urine.
- Derivatization of acylcarnitines to butylesters.
- Detection using flow-injection electrospray ionization tandem mass spectrometry (ESI-MS/MS).
Main Results:
- The described protocols enable measurement of various acylcarnitine chain lengths.
- The ESI-MS/MS method is sensitive for detecting abnormal acylcarnitine accumulation.
- The method is applicable to diverse biological specimen types.
Conclusions:
- Acylcarnitine analysis via ESI-MS/MS is a valuable tool for diagnosing >20 inborn errors of metabolism.
- This analytical approach supports patient monitoring and treatment management.
- The protocols offer a reliable method for assessing fatty acid metabolism disorders.
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