Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

Table 3 Epidemiology of MCAD deficiency in The Netherlands before and after the introduction of population NBS

MCAD deficiency in The Netherlands	Frequencies (95% CI)
ACADM mutation carrier frequency^a	1/55 (1/46 – 1/68)
Expected prevalence^a	1/12,100 (1/8,450 – 1/18,500)
Observed prevalence 1985-1999^b	1/27,400 (1/23,000 – 1/33,900)
Screened newborns 2007-2010^c	735,282
Patients 2007-2010^d	84
Prevalence upon neonatal screening^d	1/8,750 (1/7,210 – 1/11,130)

^a According to De Vries et al.[15]; ^b According to Derks et al.[4]; ^c According to CBS; ^d This study.

ISSN: 1750-1172