Comparison of Urinary Acylglycines and Acylcarnitines as Diagnostic Markers of Medium-chain Acyl-CoA Dehydrogenase Deficiency

At least eight inborn errors of mitochondrial fatty acid β-oxidation are currently known. In the span of the last few years, almost 200 patients suffering from one of these disorders have been diagnosed (Vianey-Liaud et al., 1987), and some of them were initially mistaken as Reye’s or sudden infant death syndrome. Since the prognosis of these patients can be greatly improved by treatment with available therapeutic measures, fast and accurate diagnosis of this group of diseases is crucial. In reality, however, the diagnosis has been difficult for many of these disorders (Editorial in Lancet, 1986).