Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS). Journal of chromatography. B, Analytical technologies in the biomedical and life sciences [J Chromatogr B Analyt Technol Biomed Life Sci] Journal article | | Title | Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS). | | Author(s) | Mushimoto Y, Hasegawa Y, Kobayashi H, Li H, Purevsuren J, Nakamura I, Taketani T, Fukuda S, Yamaguchi S | | Institution | Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 Enya, Izumo, Shimane 693-8501, Japan. | | Source | J Chromatogr B Analyt Technol Biomed Life Sci 2009 May 3. | | Abstract | Glutaric acidemia type 1 (GA1) is usually diagnosed with an accumulation of glutaric acid (GA) or 3-hydroxyglutaric acid by GC/MS. In some cases, however, excretion of GA is low. We investigated enzymatic evaluation of GA1 using fibroblasts and MS/MS. After loading substrates, lysine, 2-aminoadipate (2AA), or GA, in fibroblasts, and incubating for 96h, glutarylcarnitine (C5DC) levels in the media were measured. A significant increase of C5DC was observed in GA1 patients, irrespective of substrates added. 2AA showed the largest difference between patients and controls (p=0.0004). Results suggested enzymatic evaluation of GA1 is useful under appropriate culture conditions. | | Language | ENG | | Pub Type(s) | JOURNAL ARTICLE
| | PubMed ID | 19467937 |
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