Medium chain Acyl-CoA Dehydrogenase 2
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) was a recessively inherited metabolic disorder that may cause hypoglycaemia, encephalopathy, hepatic dysfunction and sudden death. Although studies of MCADD screening in other countries existed, important questions were unanswered. Additionally, uncertainty remained over the clinical outcome following detection through newborn screening. This study aimed to ascertain all cases of MCADD diagnosed during the study period to determine the clinical outcome to 2 years of age. This was to inform the national screening policy. It also aimed to determine the detection rate of screening for MCADD in a UK setting.
Lead investigator
Dr C Dezateux
About the study
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) was a recessively inherited metabolic disorder that may cause hypoglycaemia, encephalopathy, hepatic dysfunction and sudden death.
At the time the study was undertaken, MCADD was a candidate for newborn screening after three systematic reviews commissioned by the Health Technology Assessment Programme. The conclusion was that more information on test performance and clinical outcomes in a UK setting was required. Subsequently, the Department of Health and the National Screening Committee funded a pilot newborn screening service for MCADD. They also commissioned a concurrent research study to evaluate the service.
Although studies of MCADD screening in other countries existed, important questions were unanswered. Additionally, uncertainty remained over the clinical outcome following detection through newborn screening. Furthermore, the findings of previous studies could not have been generalisable to a UK setting, screening was carried out several days later in the UK, and the population was ethnically more diverse than in countries that have previously reported MCADD screening.
Objectives
- To ascertain all cases of MCADD diagnosed to determine clinical outcomes up to two years of age.
- To estimate test performance, predictive value, specificity and detection rate of screening for MCADD.
Duration
June 2004 – May 2008
Published papers
BPSU 23rd Annual report 2008 -2009