Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK

TLDR

MCAD deficiency is a common, variably presenting fatty‑acid oxidation disorder in north‑west Europe that is likely underdiagnosed. The study aimed to assess how MCAD deficiency is diagnosed and what outcomes occur in the UK. A prospective surveillance was conducted via the British Paediatric Surveillance Unit. Among 62 identified cases (incidence 4.5/100 000 births), 46 presented acutely (10 deaths), 13 were detected by family history, 3 for other reasons, six survivors had neurological impairment, and the high mortality and morbidity underscore the need for universal neonatal screening in England and Scotland.

Abstract

<h3>BACKGROUND</h3> Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a common disorder of fatty acid oxidation in north west Europe. It is very variable in its clinical consequences and is believed to be considerably underdiagnosed. <h3>OBJECTIVE</h3> To investigate the diagnosis and outcome of MCAD deficiency in the UK. <h3>METHOD</h3> A prospective surveillance study through the British Paediatric Surveillance Unit. <h3>RESULTS</h3> Of 62 affected individuals identified, 57 were from England, giving an incidence of 4.5 cases/100 000 births. Forty six cases presented with an acute illness (10 of whom died), 13 cases were identified because of family history, and three for other reasons. Six of the survivors were neurologically impaired. <h3>CONCLUSIONS</h3> Despite increased clinical awareness, the mortality and morbidity from MCAD deficiency remain high. The frequency and severity of the disease support the case for the introduction of universal neonatal screening in England and Scotland.