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

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

	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 > A^a
c.1073A > T^a
c.503A > C^a
IVS8-13A > G^a
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.424-426delAAG^a
Heterozygous mutation carriers	8	0.50
c.985A > G		(mean 0.52, range 0.44-0.70)
c.347G > A
c.430-432delAAG^a
c.583G > A

ISSN: 1471-2431