2017 Fiscal Year Final Research Report
Study on screening methods for Menkes disease using neonatal mass screening system
| Project/Area Number |
15K19636
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Teikyo University |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Keywords | Menkes病 / occipital horn症候群 / 新生児マススクリーニング / 濾紙血 |
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| 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.
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| Free Research Field |
小児科
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