Table I.

Characteristics of patients experiencing at least one interim acute hyperammonemia event. NAGSD – N-acetylglutamate synthase deficiency; CPS1D – carbamoyl phosphate synthetase deficiency; OTCD – ornithine transcarbamylase deficiency; ASD – argininosuccinate synthetase deficiency; ALD – argininosuccinate lysase deficiency; ARGD – arginase deficiency; CITRD – citrin deficiency.

UCD subtype		NAGSD	CPS1D	OTCD	ASD	ALD	ARGD	CITRD	Undefined UCD	Total
Gender, n (%)
Female		1 (50)	2 (67)	40 (61)	15 (58)	11 (58)	4 (44)	1 (100)	1 (50)	75 (59)
Male		1 (50)	1 (33)	26 (39)	11 (42)	8 (42)	5 (56)	0 (0)	1 (50)	53 (41)
Disorder total		2 (1.5)	3 (2)	66 (52)	26 (20)	19 (15)	9 (7)	1 (1)	2 (1.5)	128 (100)
Ages, mean (SD), n										Average
Enrollment (years)		15.5 (2.1), 2	4.3 (6.7), 3	12.3 (13.3), 66	6.1 (8.2), 26	8.8 (10.6), 19	12.3 (11.7), 9	2.0 (.), 1	3.5 (5.0), 2	10.2 (11.7), 128
Diagnosis (days)		2191.5 (2066.2), 2	153.9 (262.2), 3	1811.1 (3347.3), 66	6.9 (7.7), 26	48.4 (128.7), 19	1116.9 (955.0), 9	334.8 (.), 1	92.8 (127.0), 2	1062.9 (2561.5), 128
First Symptoms (days)		1.0 (.), 1	2.0 (1.4), 2	3.7 (3.4), 15	3.2 (2.2), 22	2.9 (1.4), 13	43.0 (.), 1	. (.), 0	1.0 (.), 1	3.9 (5.9), 55
Diagnosed (%)										Total
Clinical presentation		2 (100)	3 (100)	56 (86)	21 (81)	15 (79)	7 (78)	1 (100)	1 (50)	106 (83)
Family history		0 (0)	0 (0)	8 (12)	2 (8)	1 (5)	2 (22)	0 (0)	1 (50)	14 (11)
Newborn screening		0 (0)	0 (0)	1 (2)	3 (11)	3 (16)	0 (0)	0 (0)	0	7 (6)