Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening

Mol Genet Metab. 2005 Jun;85(2):157-9. doi: 10.1016/j.ymgme.2004.12.010. Epub 2005 Feb 12.

Abstract

The incidence of severe metabolic crises in medium chain acyl-CoA dehydrogenase deficiency (MCADD) patients homozygous for the common c.985A>G mutation, who had been identified by neonatal screening, was assessed prospectively and compared to retrospective cohort data in unscreened patients with identical genotypes. Logrank test showed a significant reduction of severe metabolic crises in the screened cohort (p<0.01). Neonatal screening appears to reduce the rate of severe metabolic crisis or death in the most prevalent subset of MCADD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Dehydrogenase / genetics*
  • Child, Preschool
  • Germany / epidemiology
  • Humans
  • Hypoglycemia / epidemiology*
  • Hypoglycemia / mortality
  • Incidence
  • Infant
  • Infant, Newborn
  • Mutation
  • Neonatal Screening*
  • Seizures / epidemiology
  • Seizures / mortality
  • Sleep Stages*

Substances

  • Acyl-CoA Dehydrogenase