Table 1.

Baseline characteristics of the study population, diagnosis and gender

	CPS1D	OTCD	ASSD	Study population
Patients	12	23	27	63a
Gender
male	4 (36.4 %)	21 (91.3 %)	12 (44.4 %)	37 (59.7 %)
female	7 (63.6 %)	2 (8.7 %)	15 (55.6 %)	25 (40.3 %)
no gender recorded	1			1

ASSD Argininosuccinate synthetase deficiency, CPS1D Carbamoyl phosphate synthetase 1 deficiency, OTCD Ornithine transcarbamylase deficiency

^aone patient missing the documentation of the diagnosis