Table 1.
Clinical Characteristics of Patients With OTCD
| NO. | Type | Clinical presentation | Peak AMONa | Peak ALTa | GLNa | CITa | Urinary OA | Uracila | Therapy received | Outcome |
| P1 | L | Vomiting | 256 μmol/L (9–33 μmol/L) | 1316 U/L (5–40 U/L) | 19.22 μmol/L (1–70 μmol/L) | 36.71 μmol/L (6–45 μmol/L) | 0 | 119.19 μmol/L (0–7 μmol/L) | Drug | Alive |
| P2 | L | Dyssomnia | 373 μmol/L (9–33 μmol/L) | 903 U/L (9–50 U/L) | ND | 34.85 μmol/L (7–36 μmol/L) | 294.93 μg/mg.Cr (0–1.5 μg/mg.Cr) | 185.06 μg/mg.Cr (0–5.5 μg/mg.Cr) | Drug and CRRT | Alive |
| P3 | L | Coma | 149 μmol/L (9–33 μmol/L) | 85 U/L (9–50 U/L) | ND | ND | ND | ND | Drug | Alive |
| P4 | L | Astasia | 272 μmol/L (9–33 μmol/L) | 713 U/L (9–50 U/L) | 31.45 μmol/L (8–45 μmol/L) | 7.31 μmol/L (6–45 μmol/L) | ND | ND | Drug and liver transplantation | Death |
| P5 | L | Vomiting Seizure Coma |
1263 μmol/L (18–72 μmol/L) | 64 U/L (0–38 U/L) | ND | 3.83 μmol/L (4–30 μmol/L) | ND | ND | CRRT Mechanical ventilation |
Death |
| P6 | L | Vomiting Unconsciousness |
221 μmol/L (9–33 μmol/L) | 20 U/L (9–50 U/L) | 20.11 μmol/L (1–55 μmol/L) | 9.51 μmol/L (5.5–45 μmol/L) | 136.2 μg/mg.Cr (0–2 μg/mg.Cr) | 18.9 μg/mg.Cr (0–8 μg/mg.Cr) | Drug CRRT Mechanical ventilation |
Death |
| P7 | L | Seizure Coma |
438.5 μmol/L (9–33 μmol/L) | 54 U/L (9–50 U/L) | 68.36 μmol/L (1–55 μmol/L) | 76.68 μmol/L (5.5–45 μmol/L) | 299.4 μg/mg.Cr (0–2 μg/mg.Cr) | 79.4 μg/mg.Cr (0–8 μg/mg.Cr) | Drug | Alive |
| P8 | L | Seizure Coma |
4,490 μmol/L (9–33 μmol/L) | 297 U/L (9–50 U/L) | 20.59 (7–35 μmol/L) | 30.41 μmol/L (9–64 μmol/L) | 85.98 μg/mg.Cr (0–0.62 μg/mg.Cr) | 6.18 μg/mg.Cr (0–8.5 μg/mg.Cr) | Drug CRRT Mechanical ventilation |
Death |
Abbreviations: ALT = alanine transaminase; AMON = ammonia; CIT = citrulline; CRRT = continuous renal replacement therapy; F = female; GLN = glutamine; L = late-onset phenotype; M = male; m = month; ND = no detection; OA = orotic acid; P = patient; y = year
a
Different reference range according to age groups and laboratory data.