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Case Reports
. 1999 Feb;22(1):9-18.
doi: 10.1023/a:1005482828392.

Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency

R Libert  1 , F Van Hoof, M Thillaye, M F Vincent, M C Nassogne, V Stroobant, E de Hoffmann, A Schanck
Affiliations
Case Reports

Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency

R Libert et al. J Inherit Metab Dis. 1999 Feb.

Abstract

Previously undescribed medium-chain acylcarnitines were identified in a urine sample from a patient with medium-chain acyl-CoA dehydrogenase deficiency. These are the 4-methylvaleryl, 4- and 5-methylhexanoyl, 6-methylheptanoyl-, 6-methyloctanoyl-, 4,5-dimethylhexanoyl- and 4,7-decadienoylcarnitines. Their chemical structures were obtained by gas chromatographymass spectrometry analysis of their fatty acid moieties as picolinyl esters.

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