Table 3.

Values of acylcarnitines and amino acids at newborn screening and follow-up for confirmed patients. CoA – coenzyme A, DBS – dried blood spot, NBS – newborn screening, ref. – reference.

Module name	NBS results (from DBS) μmol/L	Follow-up (from DBS) μmol/L	Confirmation tests
Very long-chain acyl-CoA dehydrogenase deficiency	C14:1: 3.41 (˂0.32) C14: 1.41 (˂0.42) C14:2: 0.44 (0–0.05) C14:1/C2: 0.200 (˂0.014) C14:1/C16: 0.84 (˂0.08)	C14:1: 0.84 (˂0.32) C14: 0.41 (˂0.42)C14:2: 0.18 (˂0.05) C14:1/C2: 0.090 (˂0.014) C14:1/C16: 0.31 (˂0.08)	One known heterozygous pathogenic variant and one likely pathogenic variant
Isovaleric acidemia	C5: 2.47 (˂0.28) C5/C0: 0.132 (˂0.018) C5/C2: 0.164 (˂0.017) C5/C3: 1.91 (˂0.21)	C5: 5.77 (˂0.28) C5/C0: 0.222 (˂0.018) C5/C2: 0.499 (˂0.017) C5/C3: 5.84 (˂0.21)	Elevated isovalerylglycine in urine Reduced enzyme activity: 0.1 nmol/(min mg prot) (ref. value: 0.94–1.94)
Medium-chain acyl-CoA dehydrogenase deficiency	C8: 0.27 (˂0.16) C6: 0.27 (˂0.12) C10: 0.11 (˂0.26) C10:1: 0.13 (˂0.09) C8/C10: 2.45 (˂1.50) C8/C2: 0.07 (0.01)	C8: 0.96 (˂0.27) C6: 0.477 (˂0.15) C10: 0.14 (˂0.32) C10:1: 0.285 (˂0.25) C8/C10: 6.8 (˂2.3) C8/C2: 0.07 (0.02)	One known heterozygous pathogenic variant and one variant of unknown significance Reduced enzyme activity: 0.20 nmol/(min mg prot) (ref. value: 0.43–1.63)
Hyperprolinemia	Proline: 623 (˂261)	Proline: 794 (˂441)	Two pathogenic variants. Elevated proline in plasma: 748 (110–417) μmol/L