CzMA JEP Home page CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ
Journals - Article
CzMA JEP Home page News About Assocation Publishing Division Medical Journals Searching Supplements Catalogue
 
  Česky / Czech version čes. slov. pediat., 2003, No. 7, p 464-467
 
Tandem Mass Spectrometry - The Future of Newborn Screening of Inborn Errors of Metabolism 
Chrastina P., Šťastná S., Myšková H., Zeman J. 

Ústav dědičných metabolických poruch VFN a 1. LF UK, Prahapřednosta prof. MUDr. M. Elleder, DrSc.
 


Summary:

       Tandem mass spectrometry is a new technology used in newborn screening of inborn errors of metabolism. This technology significantly increases preventive effect of newborn screening. It enables to screen simultaneously within the same analytical run not only phenylketonuria but also 24 others inborn errors of metabolism from a dried blood spot. The early diagnosis and treatment are now possible by to date late or no diagnosing disorders. The overall incidence of detectable inborn errors of metabolism bymeasurement of amino acids and acylcarnitines is 1:4500.

        Key words: inborn errors of metabolism, newborn screening, tandem mass spectrometry
       

Order this issue

  BACK TO CONTENTS  
 
 
| HOME PAGE | CODE PAGE | CZECH VERSION |
©  1998 - 2008 CZECH MEDICAL ASSOCIATION J. E. PURKYNĚ
Created by: NT Servis, s.r.o., hosted by P.E.S. consulting, s.r.o.
WEBMASTER