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

LABORATORY DATA

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