Title of article
ESI–MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders
Author/Authors
Kobayashi، نويسنده , , Hironori and Hasegawa، نويسنده , , Yuki and Endo، نويسنده , , Mitsuru and Purevsuren، نويسنده , , Jamiyan and Yamaguchi، نويسنده , , Seiji، نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 2007
Pages
8
From page
80
To page
87
Abstract
Acylcarnitines in urine from 45 patients with organic acidemias and fatty acid oxidation disorders were evaluated using ESI–MS/MS. The urinary acylcarnitine profiles in organic acidemias, SCAD deficiency and MCAD deficiency were compatible with blood acylcarnitine profiles, and abnormalities in urinary acylcarnitine profiles in these conditions were enhanced following carnitine loading. Urinary acylcarnitine profiles were not helpful for characterization of long-chain fatty acid disorders, but a combination of urine and blood acylcarnitine analysis was useful for differential diagnosis of carnitine deficit.
Keywords
Carnitine deficiency , Pivoxil , Glutaric , Aciduria type 1 , GA1 , urine , Acylcarnitine , Organic acidemia , Fatty acid oxidation disorder , Screening , ESI–MS/MS , Electrospray ionization tandem mass spectrometry , Newborn screening
Journal title
Journal of Chromatography B
Serial Year
2007
Journal title
Journal of Chromatography B
Record number
1464901
Link To Document