Abstract：
:The analysis of circulating free carnitine and acyl-carnitines provides a powerful selective screening tool for genetic defects in mitochondrial fatty acid oxidation and defects in the catabolism of branched chain amino acids. Using electrospray tandem mass spectrometry (ESI/MS/MS) we developed a sensitive quantitative analysis of free carnitine and acyl-carnitines in plasma and/or serum. This method was evaluated by analyzing 250 control samples and 103 samples of patients suffering from twelve different defects in either mitochondrial fatty acid oxidation or the catabolism of branched chain amino acids. The reproducibility of the method was acceptable with a day-to-day coefficient of variation ranging from 6-15% for free carnitine and the different acylcarnitines. Except for one patient with a mild form of short chain acyl CoA dehydrogenase (SCAD) deficiency and a single sample from a patient with a mild form of multiple acyl CoA dehydrogenase (MAD) deficiency all patient samples were clearly abnormal under a wide variety of clinical conditions, illustrating the high sensitivity and specificity of the method.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Vreken P,van Lint AE,Bootsma AH,Overmars H,Wanders RJ,van Gennip AHdoi
10.1007/0-306-46818-2_38subject
Has Abstractpub_date
1999-01-01 00:00:00pages
327-37eissn
0065-2598issn
2214-8019journal_volume
466pub_type
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