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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

AnalyteMatrixPROPIONIC ACIDURIAMETHYLMALONIC ACIDURIA
No AMDAMDP-valueKnownNo AMDAMDP-valueKnown
Median + SD [Min-Max] (N)Median + SD [Min-Max] (N)Median + SD [Min-Max] (N)Median + SD [Min-Max] (N)
Clinical chemistry
 UreaPlasma3.5 + 1.8 [0.4–8.0] (84)6.3 + 2.9 [0.6–15.3] (103)< 0.0001No3.0 + 1.6 [1.0–8.2] (93)9.1 + 8.0 [1.8–25.3] (10)0.0043Yes
 GlucosePlasma5.1 + 1.1 [3.8–10.9] (104)6.2 + 5.4 [1.2–44.8] (194)< 0.0001Yes5.2 + 1.1 [3.7–11.2] (86)6.1 + 1.2 [4.8–9.5] (27)0.0288No
 AmmoniaPlasma75 + 41 [9–222] (107)115 + 221 [21–1807] (170)< 0.0001Yes45 + 22 [13–97] (66)49 + 33 [20–161] (22)NS 
 Calcium ionizedPlasma1.30 + 0.06 [1.09–1.38] (33)1.22 + 0.08 [0.91–1.32] (75)0.0001No1.27 + 0.05 [1.07–1.35] (40)1.22 + 0.06 [1.14–1.32] (10)NS 
Targeted metabolic assays
 LeucinePlasma59 + 23 [31–152] (73)113 + 65 [16–318] (34)< 0.0001No77 + 40 [34–223] (77)97 + 11 [89–104] (2)NS 
 PhenylalaninePlasma37 + 8 [26–61] (73)54 + 22 [32–146] (34)0.0001No45 + 14 [24–110] (77)77 + 16 [65–88] (2)NS 
 ValinePlasma66 + 26 [20–183] (73)121 + 72 [25+  344] (34)0.0019Yes107 + 42 [41–217] (77)143 + 11 [135–150] (2)NS 
 IsoleucinePlasma21 + 9 [7–48] (73)40 + 28 [8–131] (29)0.0104Yes32 + 15 [7–84] (77)43 + 12 [34–51] (2)NS 
 Lactic acidUrine46 + 206 [18–1067] (30)878 + 3462 [201–11,273] (16)< 0.0001Yes41 + 314 [2–3424] (149)123 + 133 [40–425] (7)NS 
 3-Hydroxybutyric acidUrine10 + 190 [2–766] (16)366 + 1311 [152–5284] (15)0.0052Yes+ 503 [0–3377] (50)14 + 2867 [9–6436] (5)NS 
 Pyruvic acidUrine29 + 24 [4–121] (24)103 + 180 [23–712] (15)0.0115No15 + 12 [0–76] (72)33 + 13 [11–45] (5)NS 
 GlutaminePlasma494 + 105 [252–793] (73)383 + 110 [189–698] (34)0.0066Yes380 + 126 [190–736] (77)303 + 13 [294–312] (2)NS 
 CitrullinePlasma28 + 8 [6–50] (73)17 + 11 [4–53] (34)0.0073Yes24 + 16 [8–133] (77)19 + 6 [14–23] (2)NS 
 C10-carnitinePlasma0.08 + 0.02 [0.04–0.14] (31)0.04 + 0.03 [0.02–0.15] (22)0.0296No0.16 + 0.79 [0.03–5.09] (68)0.10 + 0.07 [0.04–0.18] (3)NS 
 Free carnitinePlasma38.9 + 16.8 [7.0–93.3] (56)22.0 + 12.4 [8.0–70.1] (25)0.0370Yes42.8 + 21.2 [3.0–105.7] (89)45.5 + 66.4 [18.1–144.3] (3)NS 
 C8-carnitinePlasma0.05 + 0.01 [0.03–0.09] (29)0.03 + 0.02 [0.01–0.10] (22)0.0446No0.11 + 0.59 [0.03–3.69] (68)0.09 + 0.04 [0.04–0.12] (3)NS 
 Homovanillic acidUrine8.3 + 7.5 [4.0–35.0] (22)2.0 + 1.9 [1.0–7.0] (15)0.0166No5.0 + 4.9 [1.0–27.5] (71)1.0–5.0 [1.0–12.0] (5)NS 
Untargeted DI-HRMS
 AcetylcysteinePlasma−0.2 + 1.6 [− 1.6–4.2] (23)3.9 + 10.1 [0.5–41.6] (15)0.0031No0.2 + 1.0 [− 2.2–2.7] (51)0.9 + 1.6 [− 0.3–2.1] (2)NS 
 Cortisol (2 isomers)Plasma0.1 + 0.9 [− 1.8–0.8] (23)1.6 + 1.1 [− 0.8–4.0] (15)0.0208No0.1 + 1.0 [− 1.8–2.8] (51)0.2 + 2.9 [− 1.9–2.2] (2)NS 
 3-Hydroxyisovaleric acid (10 isomers)Plasma0.0 + 7.5 [− 1.9–33.8] (23)12.3 + 13.6 [4.3–58.7] (15)0.0412Yes0.0 + 0.7 [− 0.6–3.4] (51)1.9 + 2.7 [− 0.1–3.8] (2)NS 
 FructoseglycinePlasma7.6 + 5.7 [− 0.8–25.8] (23)0.9 + 2.6 [− 1.3–6.2] (15)0.0073No2.2 + 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