Table 3 Comparison of clinical characteristics between cblC-MMA and mut-MMA patients diagnosed by NBS.

From: Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes

Characteristics

cblC-MMA

p1

mut-MMA

p2

NBS

non-NBS

NBS

non-NBS

No.

558

742

 

112

174

 

Male sex, No. (%)

298 (53.4)

425 (57.3)

0.18

56 (50.0)

104 (59.8)

0.13

Age during follow-up (years), median (IQR)

1.56 (0.79–2.80)

3.89 (1.82–6.72)

<0.0001

1.73 (0.78–3.32)

3.04 (1.42–6)

<0.0001

Onset of disease

    

Onset age (months)

0.059 (0.01–0.21)

0.21 (0.051–0.67)

<0.0001

0.02 (0.01–0.25)

0.08 (0.01–0.98)

0.037

Onset of symptoms, No. (%)a

342 (62.3)

728 (98.6)

<0.0001

64 (58.7)

171 (98.3)

<0.0001

Early onset, No. (%)

212 (92.2)

504 (80.4)

<0.0001

42 (91.3)

30 (80.5)

0.14

Treatment

    

Interval from onset to treatment (days)b

15 (1–37)

42 (12–167)

<0.0001

1.5 (−16 to 23)

16 (5–38)

0.39

Pre-treatment onset, No. (%)a

174 (43.4)

725 (98.9)

<0.0001

32 (37.7)

171 (98.3)

<0.0001

Responsive to vitB12 treatment, No. (%)a

527 (100.0)

644 (100.0)

NA

55 (56.1)

49 (38.9)

0.015

Outcome

    

Good prognosis, No. (%)

287 (51.4)

80 (10.8)

<0.0001

59 (52.7)

23 (13.2)

<0.0001

Poor, No. (%)

271 (48.6)

662 (89.2)

53 (47.3)

151 (86.8)

 Deceased, No. (%)

10 (3.7)

53 (8.0)

0.025

12 (22.6)

55 (36.4)

0.095

 Ocular complications, No. (%)a,c

33 (55)

67 (64.4)

0.31

1 (20.0)

5 (38.5)

0.85

 Nephropathy, No. (%)a,c

4 (36.4)

15 (55.6)

0.48

0 (0.0)

2 (66.7)

>0.9999

 Anemia, No. (%)a,c

34 (23.6)

32 (12.5)

0.0051

10 (47.6)

12 (31.6)

0.26

 Neurologic disorders, No. (%)a,c

186 (98.9)

523 (99.4)

0.85

25 (100)

66 (97.1)

0.95

   Motor disturbance, No. (%)a,c

43 (41)

180 (52.5)

0.051

10 (47.6)

23 (62.2)

0.42

   Language impairment, No. (%)a,c

69 (71.9)

249 (75.5)

0.56

11 (68.8)

19 (50.0)

0.33

   Abnormal neuropsychological test results, No. (%)a,c

61 (95.3)

174 (97.2)

0.75

9 (100.0)

18 (90.0)

0.85

   Abnormal MRI results, No. (%)a,c

107 (93.0)

312 (93.2)

>0.9999

8 (66.7)

41 (97.6)

0.0068

   Hydrocephalus, No. (%)a,c

25 (75.8)

93 (80.2)

0.76

1 (100)

3 (75)

>0.9999

  1. p1: the differences of the corresponding items between cblC (NBS) group and cblC (non-NBS) group; p2: the differences of the corresponding items between mut (NBS) group and mut (non-NBS) group.
  2. No. number, IQR interquartile range, NBS newborn screening, MRI magnetic resonance imaging.
  3. aCases for which the corresponding information or test results were not available are not counted in the totals used to calculate the percentages.
  4. bNegative numbers represent days of treatment prior to onset.
  5. cHealty cases are not counted in the totals used to calculate the percentages.
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