Determinación de valores normales de acilcarnitinas en una población infantil sana como herramienta diagnóstica de errores hereditarios de la β-oxidación mitocondrial de los ácidos grasos

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 β-oxidation deficiencies.