[Determination of normal acylcarnitine levels in a healthy pediatric population as a diagnostic tool in inherited errors of mitochondrial fatty acid beta-oxidation]

Abstract

Introduction: Acylcarnitine measurement in blood is a useful test for the diagnosis of inherited errors of mitochondrial fatty acid beta-oxidation. However, there are few data in the literature on the reference ranges of the various acylcarnitines and on whether these reference ranges are age- or sex-dependent.

Objectives: To draw attention to inherited errors of mitochondrial fatty acid beta-oxidation and to establish reference acylcarnitine values in children.

Patients and methods: A total of 309 blood samples from healthy children divided into four age groups (group A: <1 month; group B: 1-12 months; group C: 1-7 years; group D: 7-18 years) were obtained and analyzed using tandem mass spectrometry.

Results and conclusion: Reference acylcarnitine values in children are provided. No significant differences were found in relation to age or sex. Our results differ from those reported in the literature reviewed. Importantly, hydroxyacylcarnitines and glutaryl carnitine are absent when normal samples are processed. We review the literature on the main clinical and laboratory findings in mitochondrial fatty acid beta-oxidation deficiencies.