1 research outputs found
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