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Table 2 Median and mean C8 screening value for confirmed cases and confirmed heterozygous carriers of MCADD by genotype

From: The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario

  N Median
Screening C8 (uM)
Homozygotes: c.985A > G 15 12.13
   (mean 11.72, range 2.64-30.41)
Compound heterozygotes: c.985A > G, detectable 2 nd mutation 5 2.01
c.250C > T   (mean 2.82, range 0.84-5.94)
c.388-5G > Aa   
c.1073A > Ta   
c.503A > Ca   
IVS8-13A > Ga   
Compound heterozygotes: c.985A > G, no detectable 2 nd mutation 5 2.69
   (mean 6.14, range 0.86-13.69
Compound heterozygotes or homozygotes for other mutations 2 12.34
c.799G>A/c.85C > A   (mean 12.34, range 0.88-23.80)
Homozygous for 3 bp deletion c.424-426delAAGa   
Heterozygous mutation carriers 8 0.50
c.985A > G   (mean 0.52, range 0.44-0.70)
c.347G > A   
c.430-432delAAGa   
c.583G > A   
  1. amutation is possibly novel