Study on relation between acute encephalopathy in childhood and causative disorders of organic and fatty acid metabolism
| Project/Area Number |
22390208
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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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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| Co-Investigator(Renkei-kenkyūsha) |
FUKAO Toshiyuki 岐阜大学, 大学院・医学系研究科, 教授 (70260578)
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| Project Period (FY) |
2010-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥13,390,000 (Direct Cost: ¥10,300,000、Indirect Cost: ¥3,090,000)
Fiscal Year 2013: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
Fiscal Year 2012: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2011: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2010: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
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| Keywords | ミトコンドリアβ酸化 / 脂肪酸代謝異常症 / 急性脳症 / in vitro probe assay / 分子解析 / ベザフィブラート / 細菌毒素 / 環境温度 / 全身性カルニチン欠乏症 / 有機酸血症 / 脂肪酸代謝異常 / MCAD欠損症 / β酸化能 |
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| Research Abstract |
Acute encephalopathy of various causes like hyperpyrexia or infection is not rare in childhood. We studied the relation between acute encephalopathy and disorders of organic and fatty acid metabolism to develop the biochemical and molecular diagnostic system, and made a diagnosis on over 74 cases with disorders of organic and fatty acid metabolism.
We investigated the mechanism of acute encephalopathy in case of food poisoning in view of fatty acid oxidation impairment, and found that the acute encephalopathy was caused by temporary disturbance of fatty acid oxidation by the toxin. Furthermore, we developed a new therapy with bezafibrate for fatty acid oxidation disorders, using the in vitro probe assay, using cultured cells and tandem mass spectrometry.
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Report
(5 results)
Research Products
(110 results)
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[Presentation] The firse case of HSD10 disease (2-Methyl-3-Hydroxybutyryl-coA dehydrogenase deficiency) from Asia2013
Author(s)
Fukao T, Akida K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Hasegawa Y, Shigematsu Y, Ohtake A, Moriyama Y, Usuda N, Hsegawa Y
Organizer
The 3rd Asian Congress for Inherited Metabolic Diseases (ACIMD), The 55th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD)
Place of Presentation
Tokyo Bay Maihama Hotel Club Resort, Chiba
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