Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish paediatric population
This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population.
Children (<18 years) with MCADD were identified via the National Centre for Inherited Metabolic Disorders and the metabolic laboratory at Temple Street Children’s University Hospital. Central Statistics Office population data was used to calculate epidemiological figures.
From 1998 to 2016, 17 children (<18 years) were diagnosed with MCADD including two patients whose initial presentation was fatal. The mean age at initial presentation was 1.48 years (Range: 0.005 to 2.86). The incidence was 1:71650 with mortality at 15.38%. No child subsequently died post diagnosis. The common c.985A>G mutation accounted for 88% of alleles.
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.
CommentsThe original article is available at www.imj.ie
Published CitationMesbah Z. et al. Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish paediatric population. 2019;112(10):1016
Publication Date16 December 2019
PublisherIrish Medical Association
- Published Version (Version of Record)