2010 Fiscal Year Final Research Report
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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| Keywords | 小児代謝 / 栄養学 / 先天代謝異常症のin vivo診断法 |
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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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