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Table 2 biochemical parameters associated with presence of AMD for PA and MMA

From: Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

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 + 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  
  1. 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