TABLE 2.

Comparison of baseline demographic, clinical, and biochemical characteristics between patients with or without symptoms before treatment.

	Asymptomatic before treatment	Symptomatic before treatment	p value
No.	337 (62.6%)	201 (37.4%)
Age during follow-up (yeas)	3.59 (0.48–4.86)	3.52 (0.67–5.25)
Age at diagnosis (months)	0.8 (1–1.73)	1.5 (1–2.2)
Biochemical features at NBS
C3	7.33 (4–26.13)	7.97 (4.01–31.5)	0.087
C3/C2	0.52 (0.2–9.19)	0.65 (0.22–3.34)	0.000
MMA	85.38 (5–3,253.72)	116.31 (5.3–1,693)	0.022
MCA	2.71 (0–397.13)	3.45 (0.17–209.1)	0.01
tHcy	100 (31–1,139)	134.2 (31–750)	0.001
Biochemical features after treatment
C3	3.08 (0.26–10.96)	3.66 (0.06–13.96)	0.002
C3/C2	0.12 (0.01–0.37)	0.14 (0.03–0.39)	0.005
MMA	4.7 (0–49.57)	6.45 (0–44.61)	0.036
MCA	0.53 (0–4.99)	0.7 (0–4.95)	0.086
tHcy	30.5 (2–59.5)	35.4 (6.47–59)	0.001
Nucleotide variant
c.609G>A	205 (60.8%)	146 (72.6%)	0.005
c.658_660delAAG	61 (18.1%)	32 (15.9%)	0.518
c.80A>G	60 (17.8%)	21 (10.4%)	0.021
c.567dupT	24 (7.1%)	26 (12.9%)	0.025
c.482G>A	80 (23.7%)	7 (3.5%)	0.000
others	166 (49.3%)	108 (53.7%)	0.315
Outcome
Normal	248 (73.6%)	50 (24.9%)
Poor	89 (26.4%)	151 (75.1%)	0.000
Intellectual impairment	88 (26.1%)	146 (72.6%)	0.000
Movement disorders	39 (11.6%)	65 (32.3%)	0.000
Ocular Complications	6 (1.8%)	25 (12.4%)	0.000
Hydrocephalus	2 (0.6%)	7 (3.5%)	0.016
Deceased	2 (0.6%)	7 (3.5%)	0.016

Reference range: C3 in the blood: 0.5–4 μmol/L; C3/C2 in the blood: 0–0.2 μmol/L; MMA in the urine: 0–4 mmol/mol creatinine; MCA in the urine: 0–0.8 mmol/mol creatinine; tHcy in the blood: 0–15 μmol/L.