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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 (%).