Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish paediatric population

Aim  This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population.  Methods  Children ( Results  From 1998 to 2016, 17 children (G mutation accounted for 88% of alleles.  Conclusion  The incidence of MCADD in Ireland is lower than global estimates. The potential for under-ascertainment and late diagnosis of cases exists in Ireland and is of concern for a treatable condition with a significant mortality when undiagnosed. The authors welcome the introduction of MCADD to the National Newborn Bloodspot Screening Program.</p