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Clinical Chemistry 43: 436-442, 1997;
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(Clinical Chemistry. 1997;43:436-442.)
© 1997 American Association for Clinical Chemistry, Inc.

Articles

Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system

Helen R. Seddon1,a, George Gray1, Rodney J. Pollitt2, Antti Iitiä3 and Anne Green1

1 Department of Clinical Chemistry, The Children's Hospital, Birmingham, UK.

2 Neonatal Screening Laboratory, The Children's Hospital, Sheffield, UK.

3 Department of Biochemistry, University of Turku, Finland.
a Author for correspondence. Fax 0121 454 2956.

We have screened 10 171 neonatal blood spots from the Trent and West Midlands regions of the UK for the common G985 mutation to more accurately establish the incidence of medium-chain acyl coenzyme (Co)A dehydrogenase (MCAD) deficiency. We have used a technique involving PCR and Eu-labeled allele-specific oligonucleotides detected by using time-resolved fluorometry on the dissociation-enhanced fluorescence immunoassay (DELFIA) system for the detection of the G985 mutation. We have also evaluated the feasibility of neonatal screening with this technique. We identified 158 G985 heterozygotes and no G985 homozygotes. The calculated incidence of MCAD deficiency in the population studied (all mutations, assuming 90% of MCAD mutations are G985) is 1 in 13 426 (95% confidence limits 1 in 10 070–1 in 18 791). At the optimum cutoff criteria, the technique has a sensitivity of 97.5%, specificity of 99.6%, and positive predictive value of 80.2%. We conclude that this study confirms that MCAD deficiency is a common inherited metabolic disease and is a candidate for neonatal screening. The methodology used is robust and suitable for large-scale population studies such as this. The technique is also potentially suitable for screening.


Key Words: indexing terms: time-resolved fluorescence • disease frequency • neonatal screening




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