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Table 4 diagnostic biomarkers for PA and MMA that are not significantly altered during AMD

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 No AMD AMD P-value
Median + SD [Min-Max] (N) Median + SD [Min-Max] (N) Median + SD [Min-Max] (N) Median + SD [Min-Max] (N)
Targeted metabolic assays
 Propionylcarnitine Plasma 54.4 + 19.6 [23.0–99.5] (34) 49.7 + 25.6 [24.0–128.0] (23) NS 21.0 + 21.7 [2.7–83.7] (68) 78.0 + 81.0 [14.8–175.5] (3) NS
 Glycine Plasma 1381 + 362 [350–1962] (73) 1160 + 514 [265–2051] (35) NS 492 + 369 [168–1916] (77) 334 + 152 [226–441] (2) NS
 Methylcitric acid Plasma   49.5 + 14.8 [24.9–78.9] (12) NS 2.2 + 2.8 [1.0–10.9] (11)   NS
 Methylcitric acid Urine 697 + 383 [425–968] (3)   NS    NS
 3-Hydroxy-propionic acid Urine 232 + 99 [89–349] (10) 738 + 355 [184–1534] (13) NS 13.0 + 18.6 [0. – 86.0] (57) 9.5 + 76.8 [4.0–161.0] (4) NS
 Methylmalonylcarnitine Plasma     7.6 + 7.7 [3.4–20.2] (5)   NS
 Methylmalonic acid Plasma     74 + 346 [3–1327] (52)   NS
 Methylmalonic acid Urine     727 + 4651 [64–21,587] (174) 4062 + 3200 [536–9044] (7) NS
 Acetylcarnitine Plasma 10.1 + 7.5 [1.6–42.2] (34) 10.9 + 9.5 [1.3–43.9] (23) NS 9.2 + 5.8 [2.1–29.9] (68) 12.6 + 24.4 [3.9–49.9] (3) NS
Untargeted DI-HRMS
 Propionylcarnitine Plasma 12.0 + 80.8 [− 2.8–363] (23) 272 + 193 [1.5–730] (15) NS 37.9 + 171 [− 1.4–684] (61) 596 + 835 [5.7–1186] (2) NS
 Glycine Plasma 9.5 + 4.8 [− 2.4–18.5] (23) 4.9 + 4.1 [− 0.4–14.7 (15) NS 1.8 + 2.2 [− 1.1–8.5] (61) 2.7 + 3.0 [0.5–4.8] (2) NS
 2-Methylcitric acid (3 isomers) Plasma 57.4 + 43.1 [− 1.8–147] (23) 93.7 + 31.4 [30.4–139] (15) NS 9.0 + 9.5 [− 0.6–41.3] (61) 41.1 + 27.0 [22.1–60.2] (2) NS
 Propionylglycine (9 isomers) Plasma 28.5 + 29.3 [− 3.0–91.1] (23) 80.6 + 50.1 [4.0–177.1] (15) NS 1.6 + 3.1 [− 2.3–10.4] (61) 5.8 + 5.3 [2.0–9.6] (2) NS
 Methylmalonic acid (3 isomers) Plasma     25.3 + 77.5 [− 0.0–376] (61) 150 + 175 [26.3–274] (2) NS
 Methylmalonylcarnitine Plasma     2.4 + 9.1 [− 2.3–29.7] (61) 22.9 + 31.7 [0.4–45.3] (2) NS
  1. 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, P p-value, SD standard deviation