Table 1. Study Participants.

Baseline characteristics of all participants enrolled in the study.

		Total	OTC deficiency (Male)	OTC deficiency (Female)	ASS1 deficiency	ASL deficiency	ARG1 deficiency
N		28	3	7	4	8	6
Median age in yrs (range)		15 (5 – 52)	41 (26 – 51)	16 (5 – 52)	8 (5 – 15)	10 (5 – 31)	16 (6 – 35)
BMI Category N (%)	Underweight	1 (4%)	0 (0%)	0 (0%)	1 (25%)	0 (0%)	0 (0%)
	Healthy	12 (43%)	0 (0%)	2 (29%)	1 (25%)	6 (75%)	3 (50%)
	Overweight	5 (18%)	2 (67%)	0 (0%)	0 (0%)	2 (25%)	1 (17%)
	Obese	10 (36%)	1 (33%)	5 (71%)	2 (50%)	0 (0%)	2 (33%)
Sex
	Male	12 (43%)	3 (100%)	0 (0%)	0 (0%)	5 (63%)	4 (67%)
	Female	16 (57%)	0 (0%)	7 (100%)	4 (100%)	3 (38%)	2 (33%)
Diagnosis N (%)
	Neonatal or NBS	9 (32%)	0 (0%)	0 (0%)	4 (100%)	5 (63%)	0 (0%)
	Family History	4 (14%)	1 (33%)	2 (29%)	0 (0%)	1 (13%)	0 (0%)
	Late-Onset	15 (54%)	2 (67%)	5 (71%)	0 (0%)	2 (25%)	6 (100%)
Documented history of HA N (%)		16 (57%)	2 (67%)	4 (57%)	4 (100%)	4 (50%)	2 (33%)

^*Numbers may not equal 100% because of rounding.

Abbreviations: ARG1, arginase; ASL, argininosuccinate lyase; ASS1, argininosuccinate synthase; BMI, body-mass index; HA, hyperammonemia; N, number; NBS, newborn screening; OTC, ornithine transcarbamylase; yrs, years;