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.