Table 4 Biomarker concentrations at presentation and during treatment, with reference ranges for abnormal values
Case | Biomarker | Presenting | Pre-carbamylglutamate | Post- carbamylglutamate | Most Recent |
|---|---|---|---|---|---|
1 | Plasma Glutamine (µmol/L) Plasma Arginine (µmol/L) Plasma Alanine (µmol/L) Plasma Citrulline (µmol/L) Urine Orotic Acid (mmol/mol creatinine) Plasma Ammonia (µmol/L) | 2132 (246–984) Normal 1980 (124–573) Normal 14.8 (2.6–5.8) 1257 (< 77) | Normal Normal Normal 0 (6–52) 7.8 (2.6–5.8) 63 (Normal) | Normal Normal Normal Normal Normal 39 (Normal) | Normal Normal Normal Normal Normal 39 (Normal) |
2 | Plasma Glutamine (µmol/L) Plasma Arginine (µmol/L) Plasma Alanine (µmol/L) Plasma Citrulline (µmol/L) Urine Orotic Acid (mmol/mol creatinine) Plasma Ammonia (µmol/L) | 793 (229–684) Normal 553 (128–447) 6 (6–35) Not done 700 (< 100) | Normal Normal 493 (128–447) Normal Not done 60 (Normal) | Normal 141 (14–111) 466 (128–447) Normal Not done 63 (Normal) | Normal Normal Normal Normal Not done 41 (Normal) |
3 | Plasma Glutamine (µmol/L) Plasma Arginine (µmol/L) Plasma Alanine (µmol/L) Plasma Citrulline (µmol/L) Urine Orotic Acid (mmol/mol creatinine) Plasma Ammonia (µmol/L) | 1062 (104–750) Normal Normal Normal Normal 434 (15–50) | 941 (104–750) Normal Normal Normal Normal 82 (15–50) | Normal Normal Normal Normal Normal 21 (Normal) | Normal Normal Normal Normal Normal 11 (Normal) |
4 | Plasma Glutamine (µmol/L) Plasma Arginine (µmol/L) Plasma Alanine (µmol/L) Plasma Citrulline (µmol/L) Urine Orotic Acid (mmol/mol creatinine) Plasma Ammonia (µmol/L) | 1448 (410–700) Normal Normal 9 (10–60) 7.3 (0.7–5.1) 120 (21–50) | Normal Normal Normal 144 (10–60) Not done 43 (Normal) | Normal 190 (40–160) Normal 166 (10–60) Not done 22 (Normal) | 400 (410–700) Normal Normal Normal Not done 25 (Normal) |
5 | Not available | ||||
6 | Plasma Glutamine (µmol/L) Plasma Arginine (µmol/L) Plasma Alanine (µmol/L) Plasma Citrulline (µmol/L) Urine Orotic Acid (mmol/mol creatinine) Plasma Ammonia (µmol/L) | 868 (49–736) Normal Normal Normal 4.1 (0.2–1.2) 203 (9–33) | Normal Normal Normal Normal Not done 118 (9–33) | 277 (414–863) Normal 208 (220–620) Normal Not done 7 (Normal) | Normal Normal Normal Normal Not done 44 (Normal) |
7 | Plasma Glutamine (µmol/L) Plasma Arginine (µmol/L) Plasma Alanine (µmol/L) Plasma Citrulline (µmol/L) Urine Orotic Acid (mmol/mol creatinine) Plasma Ammonia (µmol/L) | 970 (205–756) Normal Normal 63 (12–55) Not done Not available | 784 (205–756) Normal Normal 169 (12–55) Not done 54 (11–32) | Normal Normal Normal Normal Not done 9 (11–32) | Normal Normal Normal Normal Not done 32 (Normal) |