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 |  |