Table 3.
B12 status and NBS results from two cases diagnosed with severe B12 deficiency at 8 and 9 months of age and their mothers.
| Patient (P) |
DBS C3 µmol/L |
DBS C3/C2 | DBS Met µmol/L |
DBS Met/Phe | DBS * tHcy µmol/L |
DBS * MMA µmol/L |
Plasma B12 pmol/L |
Plasma tHcy µmol/L |
Plasma MMA µmol/L |
|---|---|---|---|---|---|---|---|---|---|
| P1 (f) | 2.40 | 0.14 | 14.5 | 0.38 | 24.1 | 2.11 | 60 | 167 | 30 |
| Mother P1 | - | - | - | - | - | - | 60 | 30 | 2.0 |
| P2 (m) | 3.05 | 0.40 | 14 | 0.24 | 22.7 | 41.1 | 80 | 110 | 231 |
| Mother P2 | - | - | - | - | - | - | 91 | 66 | 4 |
DBS, dried blood spot; Met, methionine; Met/Phe, methionine/phenylalanine; f, female; m, male; * tHcy DBS and MMA DBS were analyzed in 2021 in the original DBS.