Enzymatic evaluation of fatty acid oxidation by an in vitro probe acylcarnitine profiling assay using peripheral lymphocytes and electrospray ionization/tandem mass spectrometry(MS/MS)
Project/Area Number |
22790983
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Single-year Grants |
Research Field |
Pediatrics
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Research Institution | Shimane University |
Principal Investigator |
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Project Period (FY) |
2010 – 2011
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Project Status |
Completed (Fiscal Year 2011)
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Budget Amount *help |
¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
Fiscal Year 2011: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2010: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
|
Keywords | 脂肪酸代謝異常症 / タンデム質量分析計 / 新生児マススクリーニング / 先天代謝異常症 / 酵素活性 / 遺伝子解析 / 脂肪酸β酸化 |
Research Abstract |
In this study, we present an enzymatic evaluation for the diagnosis of Medium-chain acyl-CoA dehydrogenases deficiency(MCADD), very long-chain acyl-CoA dehydrogenase deficiency(VLCADD) and Glutaric acidemia type 2(GA2) that are frequent in fatty acid oxidation disorders, by an in vitro probe acylcarnitine profiling assay using peripheral lymphocytes and electrospray ionization/tandem mass spectrometry(MS/MS). Peripheral lymphocytes are easily available than fibroblasts and this method is helpful for confirmation of diagnosis of fatty acid oxidation disorder in newborn screening by MS/MS. Further, our results suggest that the ratio of intracellular carnitine/extracellular free carnitine is also useful for diagnosis of carnitine transporter deficiency(OCTN2 deficiency).
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Report
(3 results)
Research Products
(56 results)
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[Presentation] 有機酸・脂肪酸代謝異常症の出生前診断の経験2011
Author(s)
長谷川有紀, 小林弘典, 虫本雄一, 山田健治, プレブスレン・ジャミヤン, 川名修一, 中川勝博, 山口清次
Organizer
第53回日本先天代謝異常学会
Place of Presentation
千葉県千葉市ホテルニューオータニ幕張
Year and Date
2011-11-26
Related Report
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[Presentation] 非誘導体化キットを用いた分析法と精度管理2011
Author(s)
小林弘典, 虫本雄一, プレブスレン・ジャミヤン, 山田健治, 高橋知男, 長谷川有紀, 山口清次
Organizer
第38回日本マス・スクリーニング学術集会
Place of Presentation
福井県福井市AOSSA
Year and Date
2011-10-29
Related Report
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[Presentation] 非誘導体化キットを用いた分析法と精度管理2011
Author(s)
小林弘典, 虫本雄一, プレブスレン・ジャミヤン, 山田健治, 高橋知男, 長谷川有紀, 山口清次
Organizer
第38回日本マス・スクリーニング学術集会`
Place of Presentation
福井県福井市AOSSA
Year and Date
2011-10-29
Related Report
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