Study for accuracy and efficacy of newborn screening by tandem mass spectrometry
| Project/Area Number |
18591146
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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 | University of Fukui |
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Principal Investigator |
YOSUKE Shigematsu University of Fukui, Faculty of Medical Sciences, Professor (80162593)
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| Co-Investigator(Kenkyū-buntansha) |
HATA Ikue University of Fukui, Faculty of Medical Sciences, Assistant Professor (50251997)
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| Project Period (FY) |
2006 – 2007
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| Project Status |
Completed (Fiscal Year 2007)
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| Budget Amount *help |
¥3,830,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥330,000)
Fiscal Year 2007: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2006: ¥2,400,000 (Direct Cost: ¥2,400,000)
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| Keywords | analytical science / mass screening / inherited metabolic disease / fatty acid / organic acid |
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| Research Abstract |
In order to clarify the accuracy of the methods and the efficacy of the system for newborn screening by tandem mass screening in Japan, a pilot study using the "non-derivatization" methods were performed, and about 50.000 newborns were tested last year. The "non-derivatization" methods had good accuracy and such advantages as safety and rapidness, and were good for large-scaled sample measurements. The isovalerylglycine measurement in dried blood spots (DBS), which was newly developed by us, were useful to eliminate false-positive cases, who were treated pivaloate-generating antibiotics, in isovaleric acidemia screening. A case with short-chain hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency, a rare inherited fatty acid oxidation disorder, was detected using such indices as C4OH-acylcarnitine (C4OH) level and C4OH/C2 ratio. Screening indices for the other fatty acid oxidation disorders were tested, and the necessities of lower cut-off values for the second DBS than the first one, measurements of serum acylcarnitines, and enzyme assays or fatty acid oxidation tests using lymphocytes were suggested. In glutarylcamitine measurements, stable-isotope labeled glutarylcamitine as an internal standard and the instrument with high sensitivity were necessary to perform the accurate measurements. It was indicated that the glutarylcamitine levels were useful to detect SCHAD deficiency as well as glutaric acidemia type I.
The gas chromatograph/mass spectrometric measurements of methylmalonic acid, glutaric acid and 3-hydroxyglutaric acid were performed to evaluate the effects of the therapy for methylmalonic acidemia and glutaric acidemia type I patients. It was shown that the levels of these metabolites, especially in cerebrospinal fluids, were good markers to assess the prognosis for the patients.
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Report
(3 results)
Research Products
(26 results)
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[Journal Article] A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation2007
Author(s)
Aoki, J., Yasuno, T., Sugie, H., Kido, H., Nishino, I., Shigematsu, Y., Kanazawa, M., Takayanagi, M., Kumami, M., Endo, K., Kaneoka, H., Yamaguchi, M., Fukuda, T., Yamamoto, T
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Journal Title
Neurology 69(8)
Pages: 804-806
Description
「研究成果報告書概要(欧文)」より
Related Report
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[Journal Article] Hypermetabolism of fat in Vla vasopressin receptor knockout mice2007
Author(s)
Hiroyama, M., Aoyagi, T., Fujiwara, Y., Birumachi, J., Shigematsu, Y., Kiwaki, K., Tasaki, R., Endo, F., Tanoue, A
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Journal Title
Mol Endocrinol 21(1)
Pages: 247-258
Description
「研究成果報告書概要(欧文)」より
Related Report
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[Journal Article] Newborn screening pilot study for citrin deficiency : No abnormal amino acid profile in some newborn patients2007
Author(s)
Shigematsu, Y., Hata, I., Mayumi, M., Tanaka, Y., Kobayashi, K., Saheki, T
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Journal Title
Journal of Japanese Society for Mass-screening 17(1)
Pages: 43-48
NAID
Description
「研究成果報告書概要(欧文)」より
Related Report
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