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Table 2 Laboratory findings and therapy of adult OTCD patients with fatal encephalopathy

From: Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

  Pt 1 (M) Pt 2 (M) Pt 3 (M) Pt 4 (M) Pt 5 (F)
Total bilirubin (mg/dl, n.v. <1.2) 1.4 5.4 7.9 Normal 2.8
ALT; AST (U/l, n.v. < 40) 62; 55 467; 226 128; 84 127; 97 81; 95
Ammonia (first measurement - maximum value, μmol/l, n.v. 50–80) 153-411 369-845 156-377 251-1145 362-901
Respiratory alkalosis (n.v.: blood pH 7.35-7.45, pCO2 35-45 mmHg, pO2 75-100 mmHg) blood pH 7.47, −, − blood pH 7.54, pCO2 30, pO2 142 blood pH 7.45, pCO2 32, pO2 202 blood pH 7.51, pCO2 27, pO2 223 blood pH 7.51, pCO2 26, pO2 274
PGlutamine (μmol/l, n.v. 399–823) 2006 4580 Normal 1680 1060
PCitrulline (μmol/l, n.v. 17–53) Normal Normal 14 3 10
PLysine; PProline (μmol/l, n.v. 105–236; 117–332) 702; Normal 900; 667 - - 462; Normal
UOrotic acid excretion (mmol/mol creatinine, n.v. 0.2-1.1) 378 34 Normal 234 136
Neuroimaging Normal at onset (CT); Cerebral edema (CT, 2 d later) Normal at onset (CT); Cerebral edema (CT, 3rd d of the second coma) Normal at onset (CT); Cerebral edema (CT, 3 d later) Normal at onset (CT and MRI) Normal at onset (CT); Cerebral edema (MRI, 2 d later)
THERAPY PHN; Antibiotics, BCAA infusion and lactulose PHN; BCAA infusion (first coma); Mannitol; Propofol and thiopental; UCD therapy: stop protein intake, high caloric intake, L-Arg and CVVHDF PHN, BCAA infusion; Mannitol; Lactulose; Antibiotics; UCD therapy: SB, SPB and L-Arg PHN; Phenytoin, thiopental and curare; UCD therapy: SB, SPB, L-Arg and CVVHDF PHN; Midazolam, metamizole and hypothermia; BCAA infusion; UCD therapy: stop protein intake, high caloric intake, SPB, L-Arg and HD
Date of starting UCD therapy (days from onset) None 2nd d from second coma 3rd d 3rd d 7th d
Ammonia after UCD therapy None Never normalized Normal Normal Normal
Time for normalisation of ammonia under UCD therapy None None 4 d 1 d and a half 4 d
  1. Abbreviations: ALT alanine aminotransferase, AST aspartate aminotransferase, − not available, Pplasma, Uurine, CT computed tomography, d days, MRI magnetic resonance imaging, PHN parenteral hydration and nutrition, BCAA branched chain amino acids, UCD urea cycle disorder, L-Arg L-arginine, CVVHDF continuous veno venous hemodiafiltration, SB sodium benzoate, SPB sodium phenylbutyrate, HD hemodialysis.