Journal of Medical Screening > Volume 15, Number 3 > Pp. 112-117

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Original Articles

Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

J M Khalid, Research Assistant , UCL Institute of Child Health, London, UK

J Oerton, Senior Research Fellow , UCL Institute of Child Health, London, UK

M Cortina-Borja, Senior Lecturer in Statistics , UCL Institute of Child Health, London, UK

B S Andresen, Associate Professor in Human Genetics , Institute of Human Genetics, Aarhus University, Aarhus, Denmark

G Besley, Consultant Biochemist , Royal Manchester Children's Hospital, Manchester, UK

R N Dalton, Senior Lecturer in Paediatric Biochemistry , Evelina Children's Hospital, London, UK

M Downing, Lead Scientist – Newborn Screening , Sheffield Children's Hospital, Sheffield, UK

A Green, Consultant Biochemist , Birmingham Children's Hospital, Birmingham, UK

M Henderson, Consultant Paediatric Biochemist , St James' University Hospital, Leeds, UK

J Leonard, Professor Emeritus , UCL Institute of Child Health, London, UK

C Dezateux, Professor of Paediatric Epidemiology  on behalf of the UK Collaborative Study of Newborn Screening for MCADD , UCL Institute of Child Health, London, UK

Correspondence to: C Dezateux, MRC Centre of Epidemiology for Child Health, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK; c.dezateux{at}ich.ucl.ac.uk

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Objectives It has been suggested that homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disease of White ethnic origin but little is known regarding its ethnic distribution. We estimated ethnic-specific homozygous c.985A>G MCADD birth prevalence from a large-scale UK newborn screening study.

Methods Homozygous c.985A>G MCADD cases were ascertained in six English newborn screening centres between 1 March 2004 and 28 February 2007 by screening approximately 1.1 million newborns using tandem mass spectrometry analysis of underivatised blood spot samples to quantitate octanoylcarnitine (C8). Follow-up biochemistry and mutation analyses for cases (mean triplicate C8 value 0.5 µmol/L) were reviewed to confirm diagnosis. Ethnicity was ascertained from clinician report and denominators from 2001 UK Census estimates of ethnic group of children less than one year.

Results Sixty-four infants were c.985A>G MCADD homozygotes (overall prevalence 5.8 per 100,000 live births; 95% CI 4.4–7.2). Sixty (93%) were White, two (3%) were mixed/other and two were of unknown ethnic origin. No Asian or Black homozygotes were identified. Proportions of White, mixed/other, Asian and Black births in screening regions were estimated, yielding homozygous c.985A>G MCADD birth prevalence of 6.9 per 100,000 (95% CI 5.2–8.8) in White, and 95% CI estimates of 0–2.7 per 100,000 in Asian and 0–5.8 in Black populations. The c.985A>G carrier frequency in the White group was estimated at one in 65 (95% CI 1/74, 1/61) under Hardy–Weinberg conditions.

Conclusion c.985A>G homozygous MCADD is not found in Black and Asian ethnic groups that have been screened at birth in England. This is consistent with the earlier published observations suggesting that MCADD due to the c.985A>G mutation is a disease of White ethnic origin.

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This article has been cited by other articles:

				C. Loughrey and M. J Bennett Screening for MCAD deficiency in newborns BMJ, March 26, 2009; 338(mar26_1): b971 - b971. [Full Text]

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