Table 3.

Levels of specific urea cycle amino acids at diagnosis for the different diseases

Type of UCD	Amino acid*
	Citrulline (μmol/L) (NV: 26 ± 8)	Arginine (μmol/L) (NV: 64 ± 24)
NAGSD, CPS1D, OTCD	10 (7-16)	39 (20-59)
ASSD	1654 (984-2400)	31 (17-41)
ASLD	173 (103-256)	36 (24-81)
ARG1D	21 (20.5- 21.5)	351 (231-470)

*Median and interquartile range (IQR).

NV: normal values.

NAGSD: N-acetylglutamate synthase deficiency; CPS1D: Carbamoylphosphate synthetase 1 deficiency; OTCD: Ornithine transcarbamylase deficiency; ASSD: Argininosuccinate synthetase deficiency; ASLD: Argininosuccinate lyase deficiency; ARG1D: Arginase 1deficiency.