Enzymatic evaluation of glutaric acidemia type 1 by an in vitro
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- 作者：Yuichi Mushimoto ; Yuki Hasegawa ; Hironori Kobayashi ; Hong Li ; Jamiyan Purevsuren ; Isamu Nakamura ; Takeshi Taketani ; Seiji Fukuda ; Seiji Yamaguchi
- 关键词：Glutaric academia type1 ; GA1 ; Glutarylcarnitine ; C5DC ; Acylcarnitine ; Electrospray ionization/tandem mass spectrometry ; MS/MS ; Fibroblasts ; In vitro probe assay ; Lysine ; Aminoadipate ; Glutaric acid
- 刊名：Journal of Chromatography B, Analytical Technologies in the Biomedical and Life Sciences
- 出版年：2009
- 出版时间：1 September 2009
- 年：2009
- 卷：877
- 期：25
- 页码：2648-2651
- 全文大小：165 K
文摘
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 96 h, 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.