Medium chain acyl-CoA dehydrogenase 1

Lead investigator

J V Leonard

About the study

Medium Chain Acyl-CoA Dehydrogenase (MCAD) is an inborn error of fatty acid oxidation with a variable presentation. Some patients develop hypoketotic hypoglycaemia or an acute encephalopathy (similar to Reye’s syndrome), others may present with hypotonia, hepatic dysfunction, or remain asymptomatic.

Studies of the frequency of the common mutation in heterozygotes suggested that MCAD deficiency was relatively common, with a birth prevalence of about one in 10,000. It seemed, however, that the proportion diagnosed varied greatly, both internationally and from one region of the UK to another. In many places, less than 5O% of the predicted cases had been diagnosed clinically. Neonatal screening for MCAD deficiency by tandem mass-spectrometry was a feasible proposition, having been performed on over 80,000 babies in the USA.

This study aimed to identify all patients in the United Kingdom diagnosed during the period of the study and to provide data to inform decisions about whether to include MCAD in a neonatal screening programme. It was hoped that by increasing general awareness of the disorder, the management of individual patients and their families would benefit.

Duration

March 1994 – March 1996

Published papers

Pollitt RJ, Leonard JV. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Arch Dis Child. 1998 Aug;79(2):116-9. doi: 10.1136/adc.79.2.116. PMID: 9797590; PMCID: PMC1717653.

Pollitt RJ, Green A, McCabe CJ, Booth A, Cooper NJ, Leonard JV et al. Neonatal screening for inborn errors of metabolism: cost, yield and outcome: a review. Health Technol Assess 1997;1(7). https://doi.org/10.3310/hta1070

BPSU Eleventh Annual report 1996 – 1997

Support Group

Climb, Climb National Information and Advice Centre for Metabolic Diseases
Web: www.climb.org.uk E-mail: info@climb.org.uk.