Table 2.
Concentrations of metabolites in plasma (μmol/L), in urine (mmol/mol of creatinine) and excretion fraction EF (%) in patient groups.
| Controls |
CBSD |
CSED |
SQORD |
EE |
SOXD/MoCD |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N | Median (2.5th-97.5th centile) | N | Median (Range) | N | Value | N | Median (Range) | N | Median (Range) | N | Median (Range) | ||
| H2S | Plasma | 59 | 0.173 (0.086–0.378) | 14 | 0.263 (0.096–0.566) | 1 | 0.15 | 3 | 0.256 (0.177–0.609) | 7 | 0.481 (0.218–0.909) | 8 | 0.146 (0.092–0.258) |
| S-sulfocysteine | Plasma | 56 | 0.342 (0.131–1.700) | 12 | 0.434 (0.024–0.833) | 1 | 0.40 | 3 | 1.31 (0.71–5.35) | 7 | 0.77 (0.29–5.38) | 10 | 8.06 (2.17–13.3) |
| Total cysteine | Plasma | 60 | 256 (190–321) | 14 | 137 (36.3–217) | 1 | 173 | 3 | 222 (199–271) | 7 | 167 (146–200) | 10 | 48.6 (26.2–91.5) |
| Lanthionine | Plasma | 62 | 0.075 (0.042–0.164) | 14 | 0.044 (0.020–0.245) | 1 | 0.075 | 3 | 0.074 (0.067–0.134) | 7 | 0.079 (0.044–0.125) | 11 | 0.091 (0.026–0.393) |
| Total homocysteine | Plasma | 60 | 9.53 (6.47–15.1) | 14 | 169 (107–298) | 1 | 24.2 | 3 | 16.8 (13.4–41.2) | 7 | 6.35 (3.16–7.43) | 10 | 1.27 (0.75–4.96) |
| Homolanthionine | Plasma | 62 | 0.007 (0.003–0.014) | 14 | 0.075 (0.020–0.378) | 1 | 0.004 | 3 | 0.007 (0.006–0.009) | 7 | 0.005 (0.002–0.007) | 11 | 0.008 (0.005–0.016) |
| Cystathionine | Plasma | 62 | 0.162 (0.077–0.390) | 14 | 0.021 (0.004–0.209) | 1 | 21.8 | 3 | 0.185 (0.176–0.266) | 7 | 0.135 (0.086–0.307) | 11 | 0.250 (0.109–0.658) |
| Sulfite | Plasma | 60 | 0.28 (0.12–0.70) | 14 | 0.33 (0.10–0.67) | 1 | 0.20 | 3 | 1.23 (0.46–4.85) | 7 | 2.15 (1.27–9.85) | 11 | 26.9 (5.13–125) |
| Thiosulfate | Plasma | 60 | 0.86 (0.27–3.24) | 14 | 1.01 (0.31–1.96) | 1 | 0.42 | 3 | 0.79 (0.58–6.66) | 7 | 15.07 (1.02–24.88) | 11 | 12.7 (4.51–111) |
| Sulfate | Plasma | 52 | 347 (243–495) | 14 | 385 (237–503) | 1 | 334 | 3 | 294 (292–318) | 7 | 335 (261–468) | 10 | 371 (193–1229) |
| Taurine | Plasma | 61 | 48.3 (32.7–80.8) | 14 | 46.8 (19.4–74.0) | 1 | 67.2 | 3 | 56.7 (48.1–72.8) | 7 | 64.9 (41.5–105) | 11 | 72.4 (40.2–260) |
| S-sulfocysteine | Urine | 54 | 0.661 (0.333–1.179) | 12 | 0.51 (0.04–3.26) | 1 | 0.87 | 3 | 0.28 (0.11–0.49) | 6 | 3.52 (1.18–6.18) | 9 | 129 (51.7–217) |
| S-sulfohomocysteine | Urine | 15 | 0.020 (0.014–0.037) | 10 | 0.40 (0.16–2.81) | 1 | 0.049 | 1 | 0.040 | 5 | 0.078 (0.014–0.291) | 8 | 0.46 (0.19–1.44) |
| Total cysteine | Urine | 58 | 18.4 (9.2–33.9) | 14 | 18.7 (3.74–52.9) | 1 | 46.6 | 3 | 16.2 (14.8–17.2) | 6 | 38.1 (21.3–136) | 9 | 156 (21.3–515) |
| Lanthionine | Urine | 58 | 0.92 (0.64–1.81) | 14 | 0.85 (0.64–2.05) | 1 | 1.29 | 3 | 1.01 (0.87–1.60) | 6 | 2.08 (1.35–3.31) | 9 | 2.13 (0.99–5.10) |
| Total homocysteine | Urine | 58 | 0.53 (0.33–3.12) | 14 | 41.1 (8.2–288) | 1 | 12.1 | 3 | 0.86 (0.73–1.70) | 6 | 1.17 (0.58–2.66) | 9 | 1.99 (0.53–4.00) |
| Homolanthionine | Urine | 58 | 0.059 (0.031–0.131) | 14 | 1.23 (0.33–4.11) | 1 | 0.086 | 3 | 0.082 (0.058–0.090) | 6 | 0.096 (0.059–0.115) | 9 | 0.139 (0.080–0.398) |
| Cystathionine | Urine | 58 | 1.07 (0.30–2.30) | 14 | 0.29 (0.02–1.21) | 1 | 311 | 3 | 0.90 (0.56–1.04) | 6 | 1.34 (0.62–2.29) | 9 | 2.03 (0.81–9.59) |
| Sulfite | Urine | 58 | 0.051 (0.009–0.281) | 14 | 0.164 (0.052–1.13) | 1 | 0.038 | 3 | 0.008 (0.004–0.015) | 6 | 6.91 (0.62–24.0) | 9 | 102 (3.07–481) |
| Thiosulfate | Urine | 58 | 1.50 (0.64–4.14) | 14 | 3.07 (0.50–14.3) | 1 | 0.75 | 3 | 2.38 (0.94–2.50) | 6 | 272 (188–522) | 9 | 179 (20.3–276) |
| Sulfate | Urine | 58 | 1170 (815–2386) | 14 | 934 (587–2350) | 1 | 970 | 3 | 900 (785–1030) | 6 | 1546 (670–4090) | 9 | 970 (180–3390) |
| Taurine | Urine | 58 | 32.4 (2.39–290) | 14 | 56.6 (0.59–303) | 1 | 9.46 | 3 | 50.7 (3.91–55.1) | 6 | 207 (52.3–679) | 9 | 374 (73.4–780) |
| S-sulfocysteine | EF | 52 | 14.0 (3.5–33.6) | 11 | 5.41 (0.19–48.7) | 1 | 8.5 | 3 | 2.7 (0.1–3.1) | 6 | 5.4 (3.0–59.7) | 6 | 34.5 (16.8–48.0) |
| Total cysteine | EF | 57 | 0.5 (0.3–1.0) | 13 | 1.10 (0.50–264) | 1 | 0.9 | 3 | 0.3 (0.3–0.4) | 6 | 0.63 (0.30–1.94) | 6 | 6.0 (1.8–10.9) |
| Lanthionine | EF | 57 | 90.2 (59.3–160) | 13 | 84.9 (0.07–195) | 1 | 54.4 | 3 | 68.1 (52.3–74.4) | 6 | 75.1 (23.4–105) | 6 | 82.0 (23.2–185) |
| Total homocysteine | EF | 57 | 0.4 (0.2–1.9) | 13 | 2.00 (0.40–11.4) | 1 | 1.4 | 3 | 0.25 (0.22–0.25) | 6 | 0.82 (0.26–1.51) | 6 | 5.48 (2.97–7.74) |
| Homolanthionine | EF | 57 | 62.7 (39.0–93.5) | 13 | 68.1 (0.01–85.4) | 1 | 101.1 | 3 | 54.4 (44.6–63.8) | 6 | 46.5 (33.6–67.3) | 6 | 49.7 (43.0–97.2) |
| Cystathionine | EF | 57 | 39.4 (15.5–72.2) | 13 | 38.0 (0.19–189) | 1 | 45.2 | 3 | 21.3 (14.6–26.6) | 6 | 19.6 (12.5–30.2) | 6 | 33.0 (14.9–43.8) |
| Sulfite | EF | 57 | 1.4 (0.1–8.1) | 13 | 1.91 (0.13–54.7) | 1 | 0.8 | 3 | 0.061 (0.004–0.082) | 6 | 5.2 (0.6–43.1) | 6 | 14.0 (0.2–44.9) |
| Thiosulfate | EF | 57 | 9.7 (1.9–50.1) | 13 | 15.3 (0.3–52.2) | 1 | 3.7 | 3 | 19.3 (0.6–22.2) | 6 | 96.8 (48.7–527) | 6 | 39.1 (15.9–81.9) |
| Sulfate | EF | 56 | 24.3 (14.4–41.3) | 12 | 16.4 (5.9–271) | 1 | 10.7 | 3 | 15.9 (12.4–16.9) | 6 | 14.1 (5.8–22.2) | 6 | 10.1 (1.8–20.1) |
| Taurine | EF | 57 | 4.4 (0.4–13.6) | 13 | 6.93 (0.16–56.6) | 1 | 0.7 | 3 | 5.2 (0.2–5.4) | 6 | 10.6 (3.6–24.7) | 6 | 15.5 (2.3–25.2) |
N, number of subjects in each group; typical concentrations of metabolites and EFs are medians for all patients from the same disease cohort.