|
Patient
|
Sex
|
Age (y)
|
Gene
|
Cobalamin resp
|
Presentation
|
Number of AMD per patient year
|
Number of samples
|
|---|
|
Targeted analysis clinical laboratory
|
Targeted metabolic assays
|
Untargeted DI-HRMS in plasma
|
Untargeted DI-HRMS in DBS
|
|---|
|
Total
|
No AMD
|
AMD
|
Total
|
No AMD
|
AMD
|
Total
|
No AMD
|
AMD
|
Total
|
No AMD
|
AMD
|
|---|
|
P.01
|
F
|
19.6
|
MUT
|
No
|
Early
|
0.4
|
217
|
46
|
19
|
96
|
43
|
5
|
20
|
11
|
1
|
15
|
0
|
1
|
|
P.02
|
M
|
11.9
|
MUT
|
No
|
Late
|
0.9
|
43
|
28
|
0
|
69
|
59
|
0
|
20
|
19
|
0
|
11
|
10
|
0
|
|
P.03
|
F
|
11.0
|
MUT
|
Yes
|
Late
|
0.1
|
6
|
6
|
0
|
18
|
17
|
1
|
8
|
8
|
0
|
7
|
7
|
0
|
|
P.04
|
F
|
7.2
|
MUT
|
No
|
Late
|
0.5
|
1
|
1
|
0
|
2
|
2
|
0
|
1
|
1
|
0
|
0
|
0
|
0
|
|
P.05
|
M
|
7.5
|
MUT
|
Yes
|
Late
|
2.1
|
1
|
0
|
0
|
6
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
P.06
|
F
|
20.2
|
MMAA
|
Yes
|
Early
|
0.1
|
79
|
52
|
1
|
76
|
59
|
1
|
18
|
14
|
0
|
7
|
7
|
0
|
|
P.07a
|
F
|
16.2
|
MMAA
|
Yes
|
Early
|
0.1
|
87
|
37
|
2
|
57
|
41
|
0
|
6
|
4
|
0
|
3
|
3
|
0
|
|
P.08a
|
M
|
b, 0.3
|
MMAA
|
Yes
|
Late
| |
0
|
0
|
0
|
2
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
P.09
|
M
|
13.9
|
MMAA
|
Yes
|
Late
|
0.1
|
7
|
7
|
0
|
7
|
7
|
0
|
2
|
2
|
0
|
2
|
2
|
0
|
|
P.10
|
F
|
11.1
|
MMAA
|
Yes
|
Late
|
0.1
|
44
|
0
|
3
|
60
|
1
|
1
|
13
|
0
|
1
|
19
|
1
|
1
|
|
P.11
|
F
|
40.6
|
MMAB
|
Yes
|
Late
|
0.0
|
25
|
10
|
0
|
16
|
11
|
0
|
2
|
1
|
0
|
0
|
0
|
0
|
|
P.12
|
M
|
0.1
|
MUT
|
No
|
Early
| |
0
|
0
|
0
|
7
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
P.13
|
M
|
37.3
|
MMA, unclass
|
Yes
|
Early
|
0.0
|
0
|
0
|
0
|
19
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
| | | | | | | |
510
|
187
|
25
|
435
|
240
|
8
|
90
|
60
|
2
|
64
|
30
|
2
|
|
P.14
|
F
|
23.1
|
PA, unclass
| |
Early
|
0.6
|
369
|
18
|
38
|
106
|
3
|
14
|
18
|
0
|
2
|
7
|
0
|
1
|
|
P.15a
|
F
|
b, 2.9
|
PA, unclass
| |
Early
|
4.1
|
33
|
28
|
3
|
0
|
0
|
0
|
1
|
1
|
0
|
0
|
0
|
0
|
|
P.16a
|
M
|
12.5
|
PA, unclass
| |
Family
|
2.4
|
92
|
6
|
19
|
21
|
3
|
3
|
9
|
1
|
2
|
13
|
0
|
2
|
|
P.17
|
F
|
17.6
|
PCCB
| |
Early
|
0.7
|
206
|
6
|
23
|
92
|
0
|
9
|
29
|
9
|
4
|
24
|
0
|
4
|
|
P.18
|
F
|
17.9
|
PCCA
| |
Early
|
0.7
|
251
|
64
|
31
|
128
|
50
|
12
|
37
|
11
|
4
|
30
|
0
|
4
|
|
P.19
|
F
|
8.6
|
PCCB
| |
Early
|
2.6
|
157
|
5
|
36
|
14
|
1
|
3
|
9
|
1
|
3
|
7
|
0
|
2
|
|
P.20
|
M
|
b, 7.5
|
PCCB
| |
Early
|
0.3
|
0
|
0
|
0
|
19
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
|
P.21
|
F
|
24.6
|
PCCA
| |
Late
|
0.2
|
16
|
0
|
0
|
7
|
0
|
0
|
1
|
0
|
0
|
0
|
0
|
0
|
|
P.22a
|
M
|
b, 19.1
|
PCCB
| |
Late
|
0.3
|
80
|
1
|
2
|
72
|
2
|
0
|
12
|
0
|
0
|
0
|
0
|
0
|
|
P.23a
|
M
|
19.1
|
PCCB
| |
Family
|
0.1
|
62
|
32
|
4
|
61
|
32
|
1
|
19
|
9
|
0
|
11
|
0
|
0
|
|
P.24
|
M
|
20.4
|
PCCA
| |
Late
|
0.2
|
11
|
0
|
1
|
7
|
0
|
0
|
4
|
0
|
0
|
3
|
0
|
0
|
| | | | | | | |
1277
|
160
|
157
|
527
|
91
|
42
|
139
|
23
|
15
|
95
|
0
|
13
|
- Subtotals are depicted in bold. aP.07 and P.08, P.15 and P.16, and P.22 and P.23 are pairs of siblings. Early onset: presentation < 28 days of life; Late onset: presentation > 28 days of life. Family: diagnosis at birth through an affected sibling. Abbreviations: AMD acute metabolic decompensation, F female, M male, unclass genetic defect is unclassified, (y) years; bpassed away
