Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in the Netherlands

The G985A mutation represents about 90% of all medium-chain acyl-CoA dehydrogenase (MCAD) allele mutations that cause the clinical symptoms of MCAD deficiency. The prevalence of carriers varies between different European populations, with high frequencies in the northwestern part of Europe. To deter...

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Bibliographic Details
Published in:Human genetics 1996-07, Vol.98 (1), p.1-2
Main Authors: DE VRIES, H. G, NIEZEN-KONING, K, KLIPHUIS, J. W, SMIT, G. P. A, SCHEFFER, H, TEN KATE, L. P
Format: Article
Language:English
Subjects:
Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases - deficiency
Acyl-CoA Dehydrogenases - genetics
Biological and medical sciences
Errors of metabolism
Gene Frequency
Genes, Recessive
Genetic Carrier Screening
Genetic Testing
Heterozygote
Humans
Lipid Metabolism, Inborn Errors - epidemiology
Lipid Metabolism, Inborn Errors - genetics
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Metabolic diseases
Mutation - genetics
Netherlands
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Summary:The G985A mutation represents about 90% of all medium-chain acyl-CoA dehydrogenase (MCAD) allele mutations that cause the clinical symptoms of MCAD deficiency. The prevalence of carriers varies between different European populations, with high frequencies in the northwestern part of Europe. To determine the prevalence of MCAD carriers with the G985A mutation in The Netherlands, we collected 6195 Guthrie cards of newborns. Mutation detection was performed with the polymerase chain reaction (PCR), in which a NcoI restriction site was created in the presence of a G985A mutation in the PCR product, followed by NcoI digestion, and gel electrophoresis. We detected a G985A carrier frequency of 1 in 59 (95% CI 1/50-1/73) in The Netherlands. The total prevalence of carriers was estimated to be 1 in 55 (95% CI 1/46- 1/68), based on a relative G985A frequency of 94% in The Netherlands.
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050149