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Table 1 General information pertaining to 149 patients caused by the MMACHC c.609G > A homozygous mutation

From: Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

Patients

n

Male

Female

n

%

n

%

Diagnosed prenatally and treated at birth

2

1

0.7

1

0.7

Detected by newborn screening

15

7

4.7

8

5.4

 Treated at birth

10

6

4.0

4

2.7

 Treated after onset

5

1

0.7

4

2.7

Clinically diagnosed

132

73

49.0

59

39.6

 Death

5

2

1.3

3

2.0

 Regular follow-up

103

60

40.3

43

28.9

 Lost to follow-up

24

11

7.4

13

8.7

Total

149

81

54.4

68

45.6

  1. Note: n number