Evaluation system of residual enzymatic activity by 13C-breath test, which improves treatment of patients with inborn error of metabolism
| Project/Area Number |
20591214
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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 | Tohoku University |
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Principal Investigator |
KURE Shigeo Tohoku University, 大学院・医学系・研究科, 准教授 (10205221)
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| Co-Investigator(Kenkyū-buntansha) |
OHURA Toshihiro 東北大学, 大学院・医学系研究科, 非常勤講師 (10176828)
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| Project Period (FY) |
2008 – 2010
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| Project Status |
Completed (Fiscal Year 2010)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2009: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2008: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 小児代謝 / 栄養学 / 先天代謝異常症のin vivo診断法 / 安定同位体 / 呼気試験 / アミノ酸代謝異常症 / 13C / 酵素活性測定 / 酵素 / 遺伝子 / 分析化学 / 先天代謝異常 / 安定同位元素 |
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| Research Abstract |
We devised a ^<13>C-breath test, which measures ^<13>CO_2 concentration in breath after administration of ^<13>C labeled substrates. We firstly developed [1-^<13>C]glycine breath test for enzymatic diagnosis of hyperglycinemia. Patients with hyperglycinemia expired significantly less ^<13>CO_2, suggesting feasibility of enzymatic diagnosis of hyperglycinemia. We secondly devised [1-^<13>C]phenylalanine breath test for enzymatic diagnosis of phenylketonuria, and found that significantly less ^<13>CO_2was expired in patients with phenylketonuria. Similar results were obtained in ^<13>Cpyruvate breath test in pyruvate dehydrogenase complex deficiency. Thus far, 13C-breath test is safe and useful facilitating better treatment of patients with inborn error of metabolism.
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Report
(4 results)
Research Products
(27 results)
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[Presentation] Nonketotic hyperglycinemia2010
Author(s)
Kure S
Organizer
The 13^<th> Annual Meeting of the Infantile Seizure Society
Place of Presentation
Howard Plaza Hotel, Taipei, Taiwan
Year and Date
2010-03-27
Related Report
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