Table 1.

Mean values and standard deviation of 48 metabolite concentrations measured in dried blood samples ($\mathsf{\mu }$mol/L) for the groups of normal and false positive NBS profiles as well as newborns with mild and classic IVA. The abbreviations can be found in Supplementary Table S1A.

Metabolites	Normal	False Positive	Mild IVA	Classic IVA
	($\mathsf{\mu }$mol/L)	($\mathsf{\mu }$mol/L)	($\mathsf{\mu }$mol/L)	($\mathsf{\mu }$mol/L)
NBS Profiles (No.)	2,105,959	103	22	6
17p	9.2 ± 7.22	8.0 ± 4.2	8.8 ± 4.67	14.9 ± 8.72
TSH	2.6 ± 1.75	2.7 ± 1.86	2.9 ± 2.09	0.7 ± 0.47
BIO	0.4 ± 0.09	0.5 ± 0.1	0.5 ± 0.06	0.5 ± 0.09
3HMG	0.0 ± 0.02	0.0 ± 0.01	0.0 ± 0.01	0.0 ± 0.01
Ala	237.1 ± 204.09	268.7 ± 194.71	236.6 ± 116.16	282.5 ± 86.74
Arg	14.7 ± 9.02	14.8 ± 10.97	15.5 ± 6.95	21.2 ± 11.1
Asa	0.6 ± 1.16	2.0 ± 2.34	0.3 ± 0.07	0.2 ± 0.08
Asp	52.8 ± 23.23	67.4 ± 60.31	55.7 ± 17.91	58.5 ± 12.63
C0	21.9 ± 11.35	20.8 ± 15.98	21.1 ± 8.49	24.5 ± 12.39
C10	0.1 ± 0.05	0.1 ± 0.06	0.1 ± 0.06	0.1 ± 0.03
C10:1	0.1 ± 0.05	0.1 ± 0.06	0.1 ± 0.07	0.1 ± 0.02
C12	0.1 ± 0.06	0.1 ± 0.04	0.1 ± 0.08	0.1 ± 0.08
C14	0.2 ± 0.08	0.2 ± 0.09	0.3 ± 0.11	0.3 ± 0.06
C14:1	0.1 ± 0.06	0.1 ± 0.05	0.2 ± 0.09	0.1 ± 0.02
C14OH	0.1 ± 0.03	0.0 ± 0.03	0.1 ± 0.06	0.1 ± 0.04
C16	3.4 ± 1.59	3.3 ± 1.66	3.3 ± 1.8	5.4 ± 1.97
C16:1	0.2 ± 0.08	0.1 ± 0.1	0.2 ± 0.07	0.2 ± 0.04
C16:1OH	0.1 ± 0.02	0.0 ± 0.03	0.1 ± 0.04	0.1 ± 0.08
C16OH	0.0 ± 0.02	0.0 ± 0.03	0.0 ± 0.03	0.0 ± 0.01
C18	1.0 ± 0.33	0.9 ± 0.3	1.0 ± 0.36	1.3 ± 0.37
C18:1	1.1 ± 0.6	1.2 ± 0.7	1.0 ± 0.61	2.0 ± 0.99
C18:1OH	0.0 ± 0.03	0.0 ± 0.03	0.0 ± 0.02	0.1 ± 0.07
C18:2	0.1 ± 0.1	0.2 ± 0.1	0.1 ± 0.06	0.3 ± 0.26
C18OH	0.0 ± 0.02	0.0 ± 0.01	0.0 ± 0.01	0.0 ± 0.01
C2	26.4 ± 12.72	22.8 ± 12.53	24.1 ± 9.56	30.5 ± 11.97
C3	2.1 ± 1.1	2.1 ± 1.3	2.0 ± 0.94	2.6 ± 1.12
C4	0.2 ± 0.14	0.3 ± 0.33	0.2 ± 0.13	0.3 ± 0.13
C5	0.1 ± 0.07	2.6 ± 2.06	2.6 ± 1.16	12.6 ± 5.22
C5:1	0.0 ± 0.02	0.0 ± 0.02	0.0 ± 0.02	0.0 ± 0.02
C6	0.1 ± 0.04	0.1 ± 0.04	0.1 ± 0.03	0.0 ± 0.01
C8	0.1 ± 0.05	0.1 ± 0.06	0.1 ± 0.02	0.1 ± 0.05
C8:1	0.1 ± 0.07	0.1 ± 0.07	0.1 ± 0.08	0.1 ± 0.04
Cit	12.0 ± 6.59	15.0 ± 9.18	12.0 ± 2.99	17.5 ± 12.3
Glu	411.8 ± 103.84	411.8 ± 156.43	415.6 ± 99.99	372.7 ± 63.81
Glut	0.1 ± 0.08	0.1 ± 0.08	0.1 ± 0.09	0.0 ± 0.01
Gly	474.8 ± 166.87	468.8 ± 293.0	494.5 ± 181.09	386.8 ± 68.31
Hci	1.8 ± 1.05	2.0 ± 2.78	1.8 ± 0.58	2.7 ± 2.85
His	448.0 ± 392.35	952.2 ± 770.84	346.7 ± 170.6	230.0 ± 77.2
Leu+Ile	137.8 ± 47.4	145.6 ± 70.45	148.8 ± 62.9	210.3 ± 73.74
MeGlut	0.1 ± 0.04	0.0 ± 0.04	0.1 ± 0.04	0.0 ± 0.01
Met	17.5 ± 7.96	20.6 ± 9.28	17.0 ± 10.84	23.0 ± 8.54
Orn	76.0 ± 78.38	83.5 ± 70.38	75.6 ± 74.08	33.7 ± 63.66
Phe	46.6 ± 13.06	55.5 ± 15.5	45.5 ± 14.01	66.3 ± 29.08
Pro	904.4 ± 440.26	681.6 ± 713.35	985.1 ± 360.82	1203.8 ± 505.32
Thr	119.4 ± 61.79	89.9 ± 109.52	124.0 ± 43.31	125.2 ± 24.0
Trp	78.5 ± 236.31	102.8 ± 34.42	63.6 ± 13.89	51.7 ± 9.78
Tyr	81.3 ± 37.95	96.8 ± 40.64	70.8 ± 34.75	170.2 ± 147.11
Val	102.5 ± 43.83	115.0 ± 64.51	111.3 ± 57.15	194.3 ± 87.61