2011 Fiscal Year Final Research Report
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 |
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| Research Field |
Pediatrics
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| Research Institution | Shimane University |
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Principal Investigator |
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| Project Period (FY) |
2010 – 2011
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| 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 |
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| 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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