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Table 3 Levels of specific urea cycle amino acids at diagnosis for the different diseases

From: Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

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)
  1. *Median and interquartile range (IQR).
  2. NV: normal values.
  3. 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.