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Mol Genet Metab
; 85(2): 157-9, 2005 Jun.
Article
En
| MEDLINE
| ID: mdl-15896661
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.
Acyl-CoA Dehydrogenase/genetics , Hypoglycemia/epidemiology , Neonatal Screening , Sleep Stages , Child, Preschool , Germany/epidemiology , Humans , Hypoglycemia/mortality , Incidence , Infant , Infant, Newborn , Mutation , Seizures/epidemiology , Seizures/mortality