Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency

Table 1 Data at diagnosis

	Serum AA (nmol/mL)	Uric AA (nmol/mg Cre)	Cerebrospinal fluid AA (nmol/mL)
Amino acids
Glutamine	1754.6	282.9	534.1
Glutamic acid	90.8	277.9	TR
Ornithine	60.3	TR	5.8
Citrulline	19.7	ND	ND
Arginine	54.4	ND	14.2
Lysine	162.8	ND	15.9
Urinary orotic acid	13.3 μg/mg Cre
Liver enzyme assay	Patient (μmol/mg protein/min)	Control
CPS1	0.024	0.023-0.074
OTC	0.17 (30% of the control)	0.51-1.51

AA: Amino acids; Cre: Creatinine; TR: Trace; ND: Not determined; CPS1: Carbamoyl-phosphate synthetase 1; OTC: Ornithine transcarbamylase.

Table 2 Laboratory data upon admission

AST	28 (IU/L)
ALT	34 (IU/L)
γGTP	19 (IU/L)
LDH	369 (IU/L)
ALP	338 (IU/L)
CHE	219 (IU/L)
T-Bil	0.6 (mg/dL)
TP	6.8 (g/dL)
Alb	3.3 (g/dL)
BUN	12.3 (mg/dL)
Cre	0.44 (mg/dL)
NH3	180 (μmol/L)
Amy	90 (IU/L)
CK	111 (IU/L)
CRP	0.3 (mg/dL)
WBC	12000 (/μL)
Hb	10.7 (g/dL)
Plt	26.4 × 104 (/μL)
PT	112 (%)
APTT	97 (%)
P-FDP	37.2 (μg/mL)
Fib	347 (mg/dL)
AT III	134 (%)

AST: Aspartate aminotransferase; ALT: Alanine aminotransferase; γGTP: γ glutamyl transpeptidase; LDH: Lactase dehydrogenase; ALP: Alkaline phosphatase; CHE: Choline esterase; T-Bil: Total bilirubin; TP: Total protein; Alb: Albumin; BUN: Blood urea nitrogen; Cre: Creatinine; Amy: Amylase; CK: Creatine kinase; CRP: C-reactive protein; WBC: White blood cell count; Hb: Hemoglobin; Plt: Platelets; PT: Prothrombin time; APTT: Activated partial thromboplastin time; P-FDP: Plasma fibrin degradation products; Fib: Fibrinogen; AT III: Antithrombin III.