Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population
Z Mesbah1, K Sing Ho1, P Fitzsimons2
1The Royal College of Surgeons in Ireland.
Insights
The incidence of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in Ireland is 1:71650, lower than global estimates. Early diagnosis and newborn screening are crucial for this treatable condition to prevent mortality.
Area of Science:
- Medical Genetics
- Epidemiology
- Metabolic Disorders
Background:
- Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a genetic disorder affecting fatty acid metabolism.
- Early diagnosis and treatment are critical to prevent severe outcomes, including mortality.
Purpose of the Study:
- To determine the disease frequency and epidemiological characteristics of MCADD in the Irish pediatric population.
- To assess the current diagnostic and mortality landscape of MCADD in Ireland.
Main Methods:
- Retrospective analysis of MCADD cases in children (<18 years) from 1998 to 2016.
- Utilized data from the National Centre for Inherited Metabolic Disorders and Temple Street Children's University Hospital.
- Calculated incidence and mortality rates using Central Statistics Office population data.
Main Results:
- Identified 17 pediatric cases of MCADD from 1998-2016, with an incidence of 1:71,650.
- Observed a mean age at presentation of 1.48 years, and a mortality rate of 15.38% prior to diagnosis.
- The common c.985A>G mutation was present in 88% of alleles; no deaths occurred post-diagnosis.
Conclusions:
- MCADD incidence in Ireland is lower than previously estimated global figures.
- Under-ascertainment and delayed diagnosis pose risks for this treatable condition.
- The study supports the inclusion of MCADD in the National Newborn Bloodspot Screening Program.
Abstract:
Aim This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population. Methods 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. Results 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. 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.
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