Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

Table 4 Comparison of data across studies

	Wilcken et al., 2009[13] Screened cohort born 1998-2002 N = 461,500	This study Screened cohort born 1999-2009 N = 1,084,195	OR; 95% CI
Prevalence group 1: MSUD, BIOD, GA I, IVA, MCADD, CACTD, CPT ID, CPT IID; LCHADD, VLCADD	n = 37 8.0:100,000	n = 122 11.25: 100,000	1.40; [0.97;2.02]
Prevalence group 2: Group 1 without MCADD	n = 13 2.8: 100,000	n = 41 3.8: 100,000	1.34; [0.72;2.51]
MCADD
Prevalence	n = 24 5.2: 100,000	n = 81 7.5: 100,000	1.44; [0.91;2.27]
Clinical presentation by day 5	N = 2	N = 2
Asymptomatic or clinical presentation after day 5	N = 22	N = 79
Metabolic decompensation during follow-up	Not reported	6/69
Physical score nil significant at 6 (Australia)/3 (Heidelberg) years	22/22	31*/32
No intellectual handicap at 6 (Australia)/3 (Heidelberg) years (IQ or intellectual development in normal range (IQ≥85))	22/22	31*/32
Normal school at ~6 yrs	15/15	9/9

Abbreviations see Table 1
* one patient never showing a metabolic decompensation but congenital cardiomyopathy of unknown origin. The clinical signs of two of three MCADD patients with a "positive" clinical status score (Table 3) were judged as non significant (see text).

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