Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations

Abstract

Mitochondrial fatty acid beta-oxidation (FAO) disorders are clinically and biochemically heterogeneous diseases mainly associated with intolerance to catabolic stress. These disorders can now be detected pre-symptomatically by newborn screening, and thus the clinical phenotype in an individual patient may be unclear. Correlation of clinical severity with concentrations of acylcarnitine species was investigated in fibroblasts from FAO-deficient patients presenting with various phenotypes and asymptomatic neonates detected by newborn screening. Intact cells were incubated in medium containing deuterium-labelled hexadecanoic acid and L-carnitine for 72h, and the accumulated acylcarnitines in th..