Table 2.

biochemical parameters associated with presence of AMD for PA and MMA

Analyte	Matrix	PROPIONIC ACIDURIA				METHYLMALONIC ACIDURIA
		No AMD	AMD	P-value	Known	No AMD	AMD	P-value	Known
		Median + SD [Min-Max] (N)	Median + SD [Min-Max] (N)			Median + SD [Min-Max] (N)	Median + SD [Min-Max] (N)
Clinical chemistry
Urea	Plasma	3.5 + 1.8 [0.4–8.0] (84)	6.3 + 2.9 [0.6–15.3] (103)	< 0.0001	No	3.0 + 1.6 [1.0–8.2] (93)	9.1 + 8.0 [1.8–25.3] (10)	0.0043	Yes
Glucose	Plasma	5.1 + 1.1 [3.8–10.9] (104)	6.2 + 5.4 [1.2–44.8] (194)	< 0.0001	Yes	5.2 + 1.1 [3.7–11.2] (86)	6.1 + 1.2 [4.8–9.5] (27)	0.0288	No
Ammonia	Plasma	75 + 41 [9–222] (107)	115 + 221 [21–1807] (170)	< 0.0001	Yes	45 + 22 [13–97] (66)	49 + 33 [20–161] (22)	NS
Calcium ionized	Plasma	1.30 + 0.06 [1.09–1.38] (33)	1.22 + 0.08 [0.91–1.32] (75)	0.0001	No	1.27 + 0.05 [1.07–1.35] (40)	1.22 + 0.06 [1.14–1.32] (10)	NS
Targeted metabolic assays
Leucine	Plasma	59 + 23 [31–152] (73)	113 + 65 [16–318] (34)	< 0.0001	No	77 + 40 [34–223] (77)	97 + 11 [89–104] (2)	NS
Phenylalanine	Plasma	37 + 8 [26–61] (73)	54 + 22 [32–146] (34)	0.0001	No	45 + 14 [24–110] (77)	77 + 16 [65–88] (2)	NS
Valine	Plasma	66 + 26 [20–183] (73)	121 + 72 [25+  344] (34)	0.0019	Yes	107 + 42 [41–217] (77)	143 + 11 [135–150] (2)	NS
Isoleucine	Plasma	21 + 9 [7–48] (73)	40 + 28 [8–131] (29)	0.0104	Yes	32 + 15 [7–84] (77)	43 + 12 [34–51] (2)	NS
Lactic acid	Urine	46 + 206 [18–1067] (30)	878 + 3462 [201–11,273] (16)	< 0.0001	Yes	41 + 314 [2–3424] (149)	123 + 133 [40–425] (7)	NS
3-Hydroxybutyric acid	Urine	10 + 190 [2–766] (16)	366 + 1311 [152–5284] (15)	0.0052	Yes	9 + 503 [0–3377] (50)	14 + 2867 [9–6436] (5)	NS
Pyruvic acid	Urine	29 + 24 [4–121] (24)	103 + 180 [23–712] (15)	0.0115	No	15 + 12 [0–76] (72)	33 + 13 [11–45] (5)	NS
Glutamine	Plasma	494 + 105 [252–793] (73)	383 + 110 [189–698] (34)	0.0066	Yes	380 + 126 [190–736] (77)	303 + 13 [294–312] (2)	NS
Citrulline	Plasma	28 + 8 [6–50] (73)	17 + 11 [4–53] (34)	0.0073	Yes	24 + 16 [8–133] (77)	19 + 6 [14–23] (2)	NS
C10-carnitine	Plasma	0.08 + 0.02 [0.04–0.14] (31)	0.04 + 0.03 [0.02–0.15] (22)	0.0296	No	0.16 + 0.79 [0.03–5.09] (68)	0.10 + 0.07 [0.04–0.18] (3)	NS
Free carnitine	Plasma	38.9 + 16.8 [7.0–93.3] (56)	22.0 + 12.4 [8.0–70.1] (25)	0.0370	Yes	42.8 + 21.2 [3.0–105.7] (89)	45.5 + 66.4 [18.1–144.3] (3)	NS
C8-carnitine	Plasma	0.05 + 0.01 [0.03–0.09] (29)	0.03 + 0.02 [0.01–0.10] (22)	0.0446	No	0.11 + 0.59 [0.03–3.69] (68)	0.09 + 0.04 [0.04–0.12] (3)	NS
Homovanillic acid	Urine	8.3 + 7.5 [4.0–35.0] (22)	2.0 + 1.9 [1.0–7.0] (15)	0.0166	No	5.0 + 4.9 [1.0–27.5] (71)	1.0–5.0 [1.0–12.0] (5)	NS
Untargeted DI-HRMS
Acetylcysteine	Plasma	−0.2 + 1.6 [− 1.6–4.2] (23)	3.9 + 10.1 [0.5–41.6] (15)	0.0031	No	0.2 + 1.0 [− 2.2–2.7] (51)	0.9 + 1.6 [− 0.3–2.1] (2)	NS
Cortisol (2 isomers)	Plasma	0.1 + 0.9 [− 1.8–0.8] (23)	1.6 + 1.1 [− 0.8–4.0] (15)	0.0208	No	0.1 + 1.0 [− 1.8–2.8] (51)	0.2 + 2.9 [− 1.9–2.2] (2)	NS
3-Hydroxyisovaleric acid (10 isomers)	Plasma	0.0 + 7.5 [− 1.9–33.8] (23)	12.3 + 13.6 [4.3–58.7] (15)	0.0412	Yes	0.0 + 0.7 [− 0.6–3.4] (51)	1.9 + 2.7 [− 0.1–3.8] (2)	NS
Fructoseglycine	Plasma	7.6 + 5.7 [− 0.8–25.8] (23)	0.9 + 2.6 [− 1.3–6.2] (15)	0.0073	No	2.2 + 2.2 [− 1.2–7.6] (51)	3.0 + 1.6 [1.8–4.1] (2)	NS

Results of clinical chemistry are presented in mmol/L, except for ammonia for which results are presented in μmol/L. Results of targeted metabolic assays in plasma are presented in μmol/L, results of targeted metabolic assays in urine are presented in mmol/mol creatinine. All p-values were adjusted according to the Bonferroni method. A p-value < 0.05 was considered statistically significant. Abbreviations DI-HRMS direct-infusion high-resolution mass spectrometry, Max maximum value, Min minimum value, (N) number of samples, NS not significant, SD standard deviation