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LC-MS Analysis of Human Platelets as a Platform for Studying Mitochondrial Metabolism

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[Recommendations for acylcarnitine profile analysis].

Marie Nowoczyn¹, Cécile Acquaviva-Bourdain², Christelle Corne³

¹Laboratoire de biochimie, CHU Caen, France.

Annales De Biologie Clinique

|September 16, 2020

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This study outlines a validated method for acylcarnitine profiling, crucial for diagnosing hereditary metabolic diseases. The approach ensures accurate identification and quantification of over thirty compounds for medical biology accreditation.

Area of Science:

Biochemistry
Medical Diagnostics
Analytical Chemistry

Background:

Biochemical diagnosis of hereditary metabolic diseases necessitates detecting numerous compounds simultaneously.
Metabolic profiling, specifically acylcarnitine analysis, offers a solution for identifying and quantifying over thirty compounds.

Purpose of the Study:

To propose a standardized approach for accrediting acylcarnitine profiling.
To meet the requirements of medical biology examinations under NF EN ISO 15189 accreditation.

Main Methods:

Validation of analytical methods for acylcarnitine profiling.
Discussion of key validation parameters relevant to medical laboratory accreditation.

Main Results:

Keywords:

ISO 15189 ISO standard acylcarnitine profile ;accreditation

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The acylcarnitine profile enables identification and quantification of more than thirty compounds.

A framework for accrediting acylcarnitine profiling has been developed.

Conclusions:

Acylcarnitine profiling is a valuable tool for diagnosing hereditary metabolic diseases.
The proposed approach supports the accreditation of acylcarnitine profiling in medical biology laboratories.