title: 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.
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.
authors.affiliation: Screening Center of the Bavarian Health and Food Safety Authority,Oberschleissheim, Germany.
authors.forename: Uta
authors.initials: U
authors.lastname: Nennstiel-Ratzel
authors.forename: Stephan
authors.initials: S
authors.lastname: Arenz
authors.forename: Esther M
authors.initials: EM
authors.lastname: Maier
authors.forename: Ina
authors.initials: I
authors.lastname: Knerr
authors.forename: Joachim
authors.initials: J
authors.lastname: Baumkötter
authors.forename: Wulf
authors.initials: W
authors.lastname: Röschinger
authors.forename: Bernhard
authors.initials: B
authors.lastname: Liebl
authors.forename: Hans-Beat
authors.initials: HB
authors.lastname: Hadorn
authors.forename: Adelbert A
authors.initials: AA
authors.lastname: Roscher
authors.forename: Rüdiger
authors.initials: R
authors.lastname: von Kries
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000235:genetics*; D002675:Child, Preschool; D005858:Germany / Q000453:epidemiology; D006801:Humans; D007003:Hypoglycemia / Q000453:epidemiology* / Q000401:mortality; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D012640:Seizures / Q000453:epidemiology / Q000401:mortality; D012894:Sleep Stages
chemical_list: D042964:Acyl-CoA Dehydrogenase