Table 2 Comparison of baseline characteristics between patients with normal and poor outcomes

Age at onset (years)

6.8(2–15)

11(2-32.8)

0.011

Time from onset to diagnosis (months)

1(0.2–132)

5(0.2–240)

0.019

Initial symptoms

 Neuropsychiatric symptoms

14(30.3)

37(69.7)

0.001

 Renal involvement

11(68.8)

5(31.2)

0.016

 Cardiovascular disease

4(66.7)

2(33.3)

0.205

 Metabolic crises

1(33.3)

2(66.7)

1.000

Nucleotide variant

 c.482G > A

10(27%)

27(73%)

0.031

 c.80 A > G

12(66.7%)

6(33.3%)

0.034

 c.394 C > T

2(25.0%)

6(75.0%)

0.275

 Others

6(46.2%)

7(53.8%)

0.955