Table 2.

Comparison of estimated mean differences between patients and controls of standardized measurements of amino acids, carnitine, free carnitine, acylcarnitines and free fatty acids in DBS and their corresponding values in PS

Metabolite	DBS			Plasma
	Mean difference	95% CI	q‐Value	Mean difference	95% CI	q‐Value
Arginine	−1.53	−2 to −1.07	0.0001	−1.31	−1.66 to −0.955	<0.0001
Asparagine	−0.803	−1.19 to −0.419	0.0043	0.258	−0.307–0.824	0.5788
C16:1 hexadecenoylcarnitine	0.135	−0.543–0.814	0.8118	−0.961	−1.5 to −0.427	0.0150
C6: hexanoylcarnitine	−0.917	−1.57 to −0.268	0.0448	0.105	−0.501–0.711	0.8891
C8:1 octenoylcarnitine	−0.389	−0.932–0.154	0.3465	−0.916	−1.51 to −0.325	0.0410
Carnitine free	−0.703	−1.47–0.0627	0.1876	1.05	0.573–1.53	0.0029
Citrulline	−1.37	−1.81 to −0.932	0.0001	−1.12	−1.57 to −0.663	0.0011
Glutamine	−0.91	−1.55 to −0.273	0.0448	−0.287	−0.987–0.413	0.6060
Histidine	−1.84	−2.25 to −1.44	>0.0001	−1.45	−1.84 to −1.05	>0.0001
Leucine/isoleucine	−0.676	−1.13 to −0.221	0.0420	−0.414	−1–0.173	0.4740
Methylhistidine	−1.09	−1.6 to −0.574	0.0043	−0.697	−1.3 to −0.0985	0.1664
Methionine	0.889	0.274–1.5	0.0448	0.365	−0.286–1.02	0.4907
Ornithine	−1.61	−1.99 to −1.22	>0.0001	1.14	0.694–1.59	0.0009
Q14: arginine/ornithine	−0.41	−1.04–0.218	0.3997	−1.36	−1.71 to −1.01	>0.0001
Q18: triglylcarnitine/leucine/isoleucine	0.725	0.293–1.16	0.0214	0.315	−0.265–0.895	0.4907
Serine	−1.24	−1.79 – −0.677	0.0036	−0.283	−0.862–0.297	0.5517
Threonine	−1.07	−1.67 – −0.472	0.0149	−0.579	−1.25–0.0892	0.3885

Negative values correspond to an overall lower mean in the patient group compared with the control group, and positive values to a higher mean. Only significant differences in either DBS or PS (with a q‐value ≤ 0.05 following correlation for multiple comparisons) are reported. The remaining set of data is given in Table S3 .

95% CI, 95% confidence interval; DBS, dried blood sample.