| 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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| 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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