Suppl. Table 1. Distribution of patients according to each country

Total / NAGS / CPS1 / Male OTC / Female OTC / ASS / ASL / ARG1 / HHH
France / 82 / 3 / 9 / 18 / 22 / 14 / 9 / 3 / 4
UK / 70 / 3 / 2 / 16 / 22 / 16 / 9 / 2 / 0
Germany / 69 / 1 / 4 / 21 / 22 / 11 / 9 / 1 / 0
Spain / 63 / 0 / 1 / 16 / 24 / 13 / 7 / 1 / 1
Italy / 42 / 0 / 1 / 8 / 10 / 10 / 9 / 1 / 3
Portugal / 28 / 0 / 0 / 6 / 17 / 3 / 0 / 2 / 0
Netherlands / 15 / 1 / 1 / 4 / 2 / 3 / 4 / 0 / 0
Denmark / 12 / 0 / 0 / 3 / 4 / 2 / 3 / 0 / 0
Czech Republic / 12 / 0 / 0 / 5 / 5 / 0 / 2 / 0 / 0
Poland / 11 / 0 / 0 / 4 / 4 / 0 / 3 / 0 / 0
Switzerland / 11 / 0 / 0 / 1 / 4 / 3 / 2 / 0 / 1
Belgium / 9 / 1 / 1 / 1 / 2 / 2 / 0 / 0 / 2
India / 8 / 0 / 0 / 0 / 0 / 7 / 1 / 0 / 0
Croatia / 7 / 0 / 0 / 2 / 2 / 1 / 2 / 0 / 0
Austria / 7 / 0 / 1 / 1 / 3 / 0 / 0 / 2 / 0
Serbia / 4 / 0 / 0 / 0 / 2 / 2 / 0 / 0 / 0
Taiwan / 3 / 0 / 1 / 1 / 1 / 0 / 0 / 0 / 0
Greece / 3 / 0 / 0 / 2 / 0 / 0 / 1 / 0 / 0
Total / 456 / 9 / 21 / 109 / 146 / 87 / 61 / 12 / 11

Data are shown as total and disease-specific number of patients with urea cycle disorders by each contributing country. 36 metabolic centres from 18 countries contributed to the study and the majority of patients derived from European countries (97.5%). Most patients in the registry are OTC-deficient patients (female OTC: 32%; male OTC: 24%), followed by ASS- (19%) and ASL-deficient (13%) patients. Each less than 5% of patients correspond to patients with CPS1, ARG1, and NAGS deficiency or HHH-syndrome; UK, United Kingdom