[A priori evaluation of the expansion of newborn screening to one or more inborn error(s) of metabolism using the technology of tandem mass spectrometry in the general population in France. Part 1: medium chain CoA dehydrogenase deficiency (MCADD)]

Hamers FF, Scemama O, Rumeau-Pichon C
Record ID 32011001588
Authors' recommendations: Expansion of the existing French newborn screening programme to include MCADD is effective in reducing MCADD mortality and morbidity and is cost-effective, particularly if the expansion to MCADD screening (which requires the introduction of tandem mass spectrometry [MS/MS] technology) is coupled with a shift in technology (to MS/MS) for the screening of phenylketonuria (PKU).HAS recommends to expand newborn screening to MCADD in the general population in France. This screening necessarily implies the use of the MS/MS. Corollary, for efficiency reasons, HAS recommends at the same time a shift to the MS/MS technology for the screening of PKU.
Project Status: Completed
Year Published: 2011
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: France
MeSH Terms
  • Acyl-CoA Dehydrogenase
  • Lipid Metabolism, Inborn Errors
  • Metabolism, Inborn Errors
  • Neonatal Screening
  • Tandem Mass Spectrometry
Organisation Name: Haute Autorité de Santé
Contact Address: 2 avenue du Stade de France, 93218 Saint-Denis La Plaine Cedex, France. Tel: +33 01 55 93 71 88; Fax: +33 01 55 93 74 35;
Contact Name: has.seap.secretariat@has-sante.fr
Contact Email: has.seap.secretariat@has-sante.fr
Copyright: Haute Autorite de Sante (French National Authority for Health) (HAS)
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