タイトル（掲載誌）Journal of Chromatography B
一般注記We developed a simple and sensitive stable-isotope dilution method for the quantification of 3-hydroxyglutaric acid (3HGA) and glutaric acid (GA) in body fluids. In our method, tert-butyldimethylsilyl (tBDMS) derivatives of 3HGA and GA were measured with a conventional electron-impact ionization (EI) mode in gas chromatography–mass spectrometry (GC–MS). The control values for 3HGA in nmol/ml were 0.15 ± 0.08 (serum; n = 10) and 0.07 ± 0.03 (CSF; n = 10). In addition, glutarylcarnitine and free carnitine were quantified by electrospray tandem mass spectrometry. Using these methods, we monitored 3HGA, GA, and glutarylcarnitine in the body fluids of three patients with glutaric aciduria type 1 found during newborn screening. None of the patients had experienced neurological strokes, which are possibly caused by the accumulation of 3HGA, at 15–24 months of age under a disease-specific treatment, including carnitine supplementation. Our data showed that 3HGA levels were relatively high in some serum samples with lower glutarylcarnitine and carnitine levels, suggesting that carnitine supplementation may play a role in preventing the accumulation of 3HGA in patients with this disease.
一次資料へのリンクURLhttps://u-fukui.repo.nii.ac.jp/?action=repository_action_common_download&item_id=19988&item_no=1&attribute_id=22&file_no=1
関連情報（DOI）10.1016/j.jchromb.2005.03.031
連携機関・データベース国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）