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.
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.
Nennstiel-Ratzel
Uta
U
Screening Center of the Bavarian Health and Food Safety Authority,Oberschleissheim, Germany.
Arenz
Stephan
S
Maier
Esther M
EM
Knerr
Ina
I
Baumkötter
Joachim
J
Röschinger
Wulf
W
Liebl
Bernhard
B
Hadorn
Hans-Beat
HB
Roscher
Adelbert A
AA
von Kries
Rüdiger
R
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
D042964:Acyl-CoA Dehydrogenase