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Study on screening methods for Menkes disease using neonatal mass screening system

Research Project

Project/Area Number 15K19636
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionTeikyo University

Principal Investigator

Sato Yasuhiro  帝京大学, 医学部, 助手 (00750241)

Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
KeywordsMenkes病 / occipital horn症候群 / 新生児マススクリーニング / 濾紙血 / メンケス病 / カテコラミン分析 / ろ紙血 / タンデムマスシステム / メタロチオネイン
Outline of Final Research Achievements

Menkes disease (MD) is a neurodegenerative disease. However, the neurological prognosis is improved by an early treatment. Early diagnosis is necessary for early treatment.
We examined three methods for neonatal screening of MD, that is, catecholamine, metallothionein and 3-O-methyldopa (3-OMD) were analyzed in the solutions eluted from newborn filter paper. Results: Catecholamines were examined by tandem mass spectrometry, but catecholamines could not be detected in the solutions from patients and controls. Metallothionein was analyzed by an ELASA Kit. There were no different between the metallothionein concentrations in the solutions from patients and that of controls (means value 529ng/mL and 585ng/mL, respectively). 3-OMD in the solutions was also analyzed by tandem mass spectrometry. There is no different between patients and controls (mean 111ng/mL and 88±27ng/mL, respectively). There results suggest that these three methods could not be used for screening of MD.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report

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Published: 2015-04-16   Modified: 2019-03-29  

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