Table 1.

Clinical details and number of samples from patients with UCD (*Patient found to have mosaic c.533 C>T (p.T178M) mutation. Mosaicism estimated at 50% based on hair root follicles and saliva specimen)

Patient	Disorder	Sex	Current age	Diagnostic confirmation	No. of samples (< 6 years)	No. of samples (> 6 years)
1	CPS I deficiency	Female	4 years 2 months	Mutation	1	0
2	CPS I deficiency	Male	6 years 2 months	Mutation	1	0
3	CPS I deficiency	Male	7 years 9 months	Mutation	1	0
4	CPS I deficiency	Male	15 years 4 months	Mutation	0	6
5	OTC deficiency	Female	15 years	Biochemical (cascade screening)	0	7
6	OTC deficiency	Female	12 years 4 months	Mutation	2	16
7	OTC deficiency	Female	7 years 10 months	Biochemical (cascade screening)	2	0
8	OTC deficiency	Female	9 years 1 month	Mutation	34	3
9	OTC deficiency	Male	8 years 9 months	Mutation*	11	1
10	OTC deficiency	Female	Deceased	Biochemical (cascade screening)	0	2
11	OTC deficiency	Female	2 years 9 months	Mutation	1	0
12	ASS deficiency	Male	Deceased	Biochemical	1	0
13	ASS deficiency	Male	30 years 2 months	Biochemical (cascade screening)	3	0
14	ASS deficiency	Female	Deceased	Biochemical	4	0