Retrospective analysis of 221 newborn-screened subjects with MCAD deficiency
NBS C8 and genotype were significant predictors of having neonatal symptoms.
Symptomatic neonates were more likely to have at least one copy of 985A > G mutation.
Neonates with select triggers were more likely to have symptoms.
The IBEM-IS is a platform to better understand newborn-screened conditions.