Table 1. The frequency of target diseases for neonatal screening among neonates in Germany, 2005–2008 (16).

Diseases	Verified cases2005–2008*1	Frequency		Diagnostic markers / methods	Urgency of intervention
Endocrinopathies
Hypothyroidism	699	1 : 3947		TSH/immunochemistry	B
Adrenogenital syndrome (AGS)	216	1 : 12771		17-OH-progesterone/immunochemistry	C
Inborn metabolic defects
Biotinidase deficiency	111	1 : 24853		Activity/enzymatic	E
Galactosemia	37	1 : 74558		Galactose and GALT activity/enzymatic	A
Aminoacidopathies
Phenylketonuria (PKU) andhyperphenylalaninemia (HPA)	494	1 : 5584		Phenylalanine and Phe/Tyr quotient /TMS	D
Maple syrup urine disease (MSUD)	17	1 : 162273		Leucine/isoleucine and valine/TMS	A
Fatty acid oxidation defects
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)	260	1 : 10610		Octanoylcarnitine/TMS	D
Long-chain 3-OH-acyl-CoA dehydrogenase deficiency (LCHAD)	13	1 : 212202		Hydroxyhexadecanoylcarnitine andhydroxyoleylcarnitine/TMS	A
Very-long-chain acyl-CoA dehydrogenasedeficiency (VLCAD)	31	1 : 88988		Tetradecanoyl- and tetradecadienoylcarnitine/ TMS	A
Carnitine cycle defects
Carnitine palmitoyl transferase I (CPT-I) deficiency	5	1 : 551727		Palmitoylcarnitine (↓) and free carnitine/TMS	E
Carnitine palmitoyl transferase II (CPT-II) deficiency	3	1 : 919544		Long-chain acylcarnitines/TMS	A
Carnitine acylcarnitine translocase (CAT) deficiency	0			Long-chain acylcarnitines/TMS	A
Organoacidemias
Glutaraciduria type I (GA I)	22	1 : 125392		Glutarylcarnitine/TMS	E
Isovaleric acidemia (IVA)	24	1 : 114943		Isovalerylcarnitine/TMS	A
Total	1932	1 : 1428

^*1Data from DGNS Screening Reports, 2005–2008 (a total of 2758633 children were screened).

For a detailed description of the screening tests and screening laboratories, see the DGNS Screening Reports (16).

A: Acute, life-threatening danger: immediate hospitalization in a primary treatment center for verification of the finding, confirmatory testing, and initiation of treatment, if indicated. For galactosemia screening, procedure A is indicated if the GALT activity is under 10%, but only when artefacts have been judged to be unlikely and the galactose level is simultaneously elevated.

B: If the TSH level exceeds 50 µU/mL, immediate outpatient presentation to a primary treatment center for the drawing of a blood sample to check the finding, and then immediate initiation of treatment with L-thyroxine, 10–15 µg/kg (17). If the TSH level is below 50 µU/mL, presentation to a primary treatment center for confirmatory testing and initiation of treatment, if indicated.

C: If the 17-OH-progesterone level is mildly elevated and/or confounding effects are present, the finding should be rechecked at once with another sample; if markedly elevated, immediate presentation to a primary treatment center for rechecking, confirmatory testing, determination of sodium and potassium levels, blood gas analysis, and renin concentration, and immediate initiation of treatment and counseling, if indicated.

D: Immediate outpatient presentation to a primary treatment center for rechecking, confirmatory testing, clinical chemistry test series, counseling, and initiation of treatment.

E: First, a blood sample is drawn to recheck the finding. If a pathological finding is confirmed, an outpatient appointment in a primary treatment center is scheduled as soon as possible for confirmation of the diagnosis and early initiation of treatment, on an inpatient basis if necessary. If glutaraciduria type I is suspected, a blood sample should be drawn before and after the administration of carnitine.