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Table 1 Description of the series

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

Disease Number (%) Gender* Presentation*
Male Female Symptomatic Asymptomatic
Neonatal Late
OTCD 67 (64.4) 26 (38.8) 41 (61.2) 9 (13.4) 7 males 52(77.6) 15 males 6 (9) 4 males
ASSD 22 (21.1) 13 (59) 9 (61) 14 (63.6) 4 (18.2) 4 (18.2)
ASLD 10 (9.61) 6 (60) 4 (40) 2 (20) 6 (60) 2 (20)
CPS1D 2 (1.92) 1 (50) 1 (50) 1(50) 1 (50)  
ARG1D 2 (1.92) 2 (100) 0 1 (50)   1 (50)
NAGSD 1 (0.96) 1 (100) 0 - 1 (100) -
Total 104 (100) (98 families) 49 (47.1) 55 (52.9) 27 (26) 64 (61.5) 13 (12.5)
  1. OTCD: ornithine transcarbamylase deficiency. ASSD: argininosuccinate synthetase deficiency; ASLD: argininosuccinate lyase deficiency; CPS1D: carbamoylphosphate synthetase 1 deficiency; ARG1D: arginase 1 deficiency; NAGSD: N-acetylglutamate synthase deficiency.
  2. *Number of cases (%).