Screening for mitochondrial fatty acid beta oxidation disorders using blood spots and cultured fibroblast by GC/MS
| Project/Area Number |
15591109
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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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 (2004)
Shimane Medical University (2003) |
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Principal Investigator |
KIMURA Masahiko Shimane University, Faculty of Medicine, Assistant professor, 医学部, 講師 (00263533)
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| Co-Investigator(Kenkyū-buntansha) |
YAMAGUCHI Seiji Shimane University, Faculty of Medicine, Professor, 医学部, 教授 (60144044)
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| Project Period (FY) |
2003 – 2004
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| Project Status |
Completed (Fiscal Year 2004)
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| Budget Amount *help |
¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 2004: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2003: ¥800,000 (Direct Cost: ¥800,000)
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| Keywords | fatty acid beta oxidation disorders / free fatty acid analysis / 3-hydroxyfatty acid analysis / 脂肪酸β酸化異常症 / 3-ヒドロキシ脂肪酸分析 |
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| Research Abstract |
We developed screening methods for mitochondrial fatty acid beta oxidation disorders, free fatty acid anlysis and 3-hydroxyfatty acid analysis using gas chromatography-mass spectrometry. Using free fatty acid analysis, we examined 918 specimens either dried blood spots or serum and found 4 cases with medium chain acyl-CoA dehydrogenase deficiency, 6 very long chain acyl-CoA dehydrogenase deficiency, and glutaric aciduria type 2. In 3-hydroxyfatty acid analysis, we revealed elevation of 3-hydroxy fatty acids from a dried blood spot specimen from a patient with mitochondrial trifunctional protein deficiency.
Using cultured fibroblast with glutaric aciduria type 2, we measured the production of tritiated water from ^3H-labeled palmitate to evaluate fatty acid beta oxidation. The ^3H release rate of a mild and late onset form of glutaric aciduria is not different from those of controls.
Conclusion
1)Free fatty acid analysis and 3-hydroxyfatty acid analysis are useful for diagnosing fatty acid beta oxidation disorders along with acylcarnitine analysis by tandem mass spectrometry.
2)An assay of fatty acid oxidation based upon ^3H release from ^3H-labeled palmitate is not suitable for a mild form of glutaric aciduria type 2. A more sensitive assay is required for the evaluation of fatty acid beta oxidation rate.
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Report
(3 results)
Research Products
(22 results)
