| 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)
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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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