Arch Dis Child 1998;79:116-119 ( August )

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

R J Pollitt,^a J V Leonard^b

^a Neonatal Screening Laboratory, Children's Hospital, Sheffield S10 2TH, UK, ^b Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, UK

Correspondence to: Dr Pollitt. e-mail: labrjp{at}sheffch-tr.trent.nhs.uk

Accepted 11 March 1998

BACKGROUNDMedium 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.
OBJECTIVETo investigate the diagnosis and outcome of MCAD deficiency in the UK.
METHODA prospective surveillance study through the British Paediatric Surveillance Unit.
RESULTSOf 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.
CONCLUSIONSDespite 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.

Keywords: medium chain acyl-CoA dehydrogenase deficiency; screening

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© 1998 by Archives of Disease in Childhood
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