Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

@article{Couce2011RelevanceOE,
  title={Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).},
  author={Mar{\'i}a L Couce and Daisy E. Casti{\~n}eiras and Jose Domingo Moure and Jos{\'e} Angel Cocho and Paula S{\'a}nchez-Pintos and Judit Garc{\'i}a-Villoria and Dulce Quelhas and Niels Gregersen and Brage S Andresen and Antonia Ribes and Jos{\'e} Mar{\'i}a Robles Fraga},
  journal={JIMD reports},
  year={2011},
  volume={1},
  pages={
          131-6
        }
}
Neonatal screening of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is of major importance due to the significant morbidity and mortality in undiagnosed patients. MCADD screening has been performed routinely in Galicia since July 2000, and until now 199,943 newborns have been screened. We identified 11 cases of MCADD, which gives an incidence of 1/18,134. During this period, no false negative screens have been detected. At diagnosis, all identified newborns were asymptomatic. Our data… CONTINUE READING
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