Simple and unambiguous method for identifying urinary acylcarnitines using gas chromatography--mass spectrometry

Area of Science:

• Clinical Chemistry
• Analytical Chemistry
• Biochemistry

Background:

• Inherited metabolic disorders like organic acidurias and acidemias are often identified by urinary acylcarnitine excretion.
• Accurate diagnosis necessitates rapid, simple, and selective methods for acylcarnitine determination in urine.

Purpose of the Study:

• To introduce a novel method for the rapid, simple, and selective determination of acylcarnitines in urine.
• To address the diagnostic needs for inherited metabolic disorders characterized by acylcarnitinuria.

Main Methods:

• The method involves chemical derivatization of zwitterionic acylcarnitines into volatile lactones.
• Analysis is performed using gas chromatography (GC) and gas chromatography-mass spectrometry (GC-MS).
• Urine samples undergo ion-exchange purification prior to analysis.

Main Results:

• Initial results demonstrate the feasibility of the proposed method for acylcarnitine analysis.
• The method shows potential for rapid and selective detection, approaching ideal clinical investigation requirements.
• An illustrative application to a clinical sample is presented, showcasing its practical utility.

Conclusions:

• The developed method offers a promising approach for the clinical investigation of acylcarnitines in urine.
• This technique could significantly aid in the early and accurate diagnosis of serious inherited metabolic disorders.
• Further validation and application in clinical settings are warranted.