15 November 2022
: Case report 
Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment
Challenging differential diagnosis, Management of emergency care, Rare disease
Satsuki Yamamoto12AEF, Shun Yamashita
1AEF*, Toshihiko Kakiuchi 3AE, Kazuya Kurogi14AEF, Tomoyo M. Nishi1AEF, Masaki Tago 1AEF, Shu-ichi Yamashita1AEF
DOI: 10.12659/AJCR.937658
Am J Case Rep 2022; 23:e937658
Table 1. Laboratory findings on admission.
| Complete blood bount | Biochemistry | Blood gas analysis (O2 3L/min) | |||
|---|---|---|---|---|---|
| White blood cell | 9.1×10/µL | Ammonia | 393 µmol/L | pH | 7.415 mg/dL |
| Neutrophil | 77.4% | Glucose | 123 mg/dL | PaCO | 41.1 mmHg |
| Lymphocyte | 16.3% | Total bilirubin | 2.6 mg/dL | PaO | 59.6 mmHg |
| Red blood cell | 607×10/µL | AST | 23 U/L | Bicarbonate | 25.9 mmol/L |
| Hemoglobin | 18.1 g/dL | ALT | 49 U/L | SBE | 1.8 mmol/L |
| Hematocrit | 51.9% | LDH | 169 U/L | Lactate | 1.9 mmol/L |
| Platelet | 27.8×10/µL | ALP | 180 U/L | Anion gap | 14.1 mmol/L |
| γ-GTP | 28 U/L | ||||
| PT-INR | 1.21 | Amylase | 78 U/L | HBs-Ag | 0.00 IU/mL |
| APTT | 30.5 second | CK | 97 U/L | HCV-Ab | 0.0 mg/dL |
| Fibrinogen | 207.6 mg/dL | Sodium | 144 mEq/L | Glucose | 74 mg/dL |
| FDP | 1.6 µg/dL | Potassium | 4.3 mEq/L | ||
| D-dimer | 0.49 µg/dL | Chlorine | 104 mEq/L | Blood culture | (–) |
| Calcium | 10.6 mg/dL | Urine culture | (–) | ||
| Total protein | 8.1 g/dL | Phosphorus | 3.5 mg/dL | ||
| Albumin | 4.7 g/dL | CRP | 0.04 mg/dL | White blood cell | 1 cells/3 µL |
| BUN | 13.1 mg/dL | TSH | 0.15 µIU/mL | Protein | 30 mg/dL |
| Creatinine | 0.87 mg/dL | Free thyroxin | 1.7 ng/mL | Glucose | 74 mg/dL |
| PT-INR – prothrombin time-international normalized ratio; APTT – activated partial thromboplastin time; FDP – fibrin/fibrinogen degradation products; BUN – blood urea nitrogen; AST – aspartate aminotransferase; ALT – alanine aminotransferase; LDH – lactate dehydrogenase; ALP – alkaline phosphatase; γ-GTP – γ-glutamyl transpeptidase; CK – creatine kinase; CRP – C-reactive protein; TSH – thyroid-stimulating hormone; pH – power of hydrogen; PaCO – partial pressure of arterial carbon dioxide; PaO – partial pressure of arterial oxygen; SBE – standard base excess; HBs-Ag – hepatitis B surface antigen; HCV-Ab – hepatitis C virus antibody. | |||||