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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

Satsuki Yamamoto12AEF, Shun Yamashita ORCID logo1AEF*, Toshihiko Kakiuchi ORCID logo3AE, Kazuya Kurogi14AEF, Tomoyo M. Nishi1AEF, Masaki Tago ORCID logo1AEF, Shu-ichi Yamashita1AEF

DOI: 10.12659/AJCR.937658

Am J Case Rep 2022; 23:e937658

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Table 1. Laboratory findings on admission.

Complete blood bountBiochemistryBlood gas analysis (O2 3L/min)
White blood cell9.1×10/µLAmmonia393 µmol/LpH7.415 mg/dL
Neutrophil77.4%Glucose123 mg/dLPaCO41.1 mmHg
Lymphocyte16.3%Total bilirubin2.6 mg/dLPaO59.6 mmHg
Red blood cell607×10/µLAST23 U/LBicarbonate25.9 mmol/L
Hemoglobin18.1 g/dLALT49 U/LSBE1.8 mmol/L
Hematocrit51.9%LDH169 U/LLactate1.9 mmol/L
Platelet27.8×10/µLALP180 U/LAnion gap14.1 mmol/L
γ-GTP28 U/L
PT-INR1.21Amylase78 U/LHBs-Ag0.00 IU/mL
APTT30.5 secondCK97 U/LHCV-Ab0.0 mg/dL
Fibrinogen207.6 mg/dLSodium144 mEq/LGlucose74 mg/dL
FDP1.6 µg/dLPotassium4.3 mEq/L
D-dimer0.49 µg/dLChlorine104 mEq/LBlood culture(–)
Calcium10.6 mg/dLUrine culture(–)
Total protein8.1 g/dLPhosphorus3.5 mg/dL
Albumin4.7 g/dLCRP0.04 mg/dLWhite blood cell1 cells/3 µL
BUN13.1 mg/dLTSH0.15 µIU/mLProtein30 mg/dL
Creatinine0.87 mg/dLFree thyroxin1.7 ng/mLGlucose74 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.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923