Can I read Stable-isotope Dilution Gas Chromatography–mass Spectrometric Measurement of 3-Hydroxyglutaric Acid, Glutaric Acid and Related Metabolites in Body Fluids of Patients with Glutaric Aciduria Type 1 Found in Newborn Screening on EtoBox?

Stable-isotope Dilution Gas Chromatography–mass Spectrometric Measurement of 3-Hydroxyglutaric Acid, Glutaric Acid and Related Metabolites in Body Fluids of Patients with Glutaric Aciduria Type 1 Found in Newborn Screening by Yosuke Shigematsu; Ikue Hata; Yukie Tanaka; Go Tajima; Nobuo Sakura; Etsuo Naito; Toru Yorifuji is a Chemistry article available to read on EtoBox.

What is Stable-isotope Dilution Gas Chromatography–mass Spectrometric Measurement of 3-Hydroxyglutaric Acid, Glutaric Acid and Related Metabolites in Body Fluids of Patients with Glutaric Aciduria Type 1 Found in Newborn Screening about?

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.

Who reads Stable-isotope Dilution Gas Chromatography–mass Spectrometric Measurement of 3-Hydroxyglutaric Acid, Glutaric Acid and Related Metabolites in Body Fluids of Patients with Glutaric Aciduria Type 1 Found in Newborn Screening?

Author

Yosuke Shigematsu; Ikue Hata; Yukie Tanaka; Go Tajima; Nobuo Sakura; Etsuo Naito; Toru Yorifuji

Publisher

Elsevier Science; Elsevier ; Elsevier BV (ISSN 1873-376X)

Published

2005

Language

EN

Field

Chemistry (Physical Sciences)