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 d ehydrogenase (MCAD) allele mutations that cause the clinical symptoms of MCAD deficiency. The prevalence of carriers varies between differen t European populations, with high frequencies in the northwestern part of Europe. To determine the prevalence of MCAD carriers with the G985 A mutation in The Nether lands, we collected 6195 Guthrie cards of new borns. Mutation detection was performed with the polymerase chain reac tion (PCR), in which a NcoI restriction site was created in the presen ce of a G985A mutation in the PCR product, followed by NcoI digestion, and gel electrophoresis. We detected a G985A carrier frequency of 1 i n 59 (95% CI 1/50-1/73) in The Netherlands. The total prevalence of ca rriers was estimated to be 1 in 55 (95% CI 1/46-1/68), based on a rela tive G985A frequency of 94% in The Netherlands.