Table 1.
Biochemical features of the patient, from birth to her last follow-up, and treatment.
| Time | C3 (µm/L) | MMA (µm/L) | Hcy (µm/L) | Met (µm/L) | Therapy |
|---|---|---|---|---|---|
| 2 d (1st DBS) |
10.05 (nv < 3.3) | 66 (nv < 3.0) | 51.15 (nv < 10) | - | / |
| 5 d (2nd DBS) |
08.41 (nv < 3.3) | 101.6 (nv <3.0) | 57 (nv < 10) | 4 (nv 9–40) | / |
| 8 d | 7.76 (nv < 2.5) | 75.6 (nv < 5) | 230 (nv 5–15) | 9 (nv 9–39) | / |
| 9 d | - | - | 240 (nv 5–15) | - | OHCbl im 1 mg, betaine 100 mg × 3 daily, folic acid 5 mg × 2 weekly |
| 12 d | 0.83 (nv < 2.5) | 14.5 (nv < 5) | 72 (nv 5–15) | 27 (nv 9–39) | same as above |
| 20 d | 0.81 (nv < 2.5) | 4.7 (nv < 5) | 36 (nv 5–15) | 25 (nv 9–39) | same as above |
| 1 m 5 d | 1.19 (nv < 2.5) | 3.6 (nv < 5) | 36 (nv 5–15) | 47 (nv 9–39) | OHCbl (0.7 mL solution daily) with i-port advanceTM, betaine 300 mg × 3 daily, folic acid 5 mg × 2 weekly |
| 1 m 28 d | 0.81 (nv < 2.5) | 2.3 (nv < 5) | - | 30 (nv 9–39) | same as above |
| 3 m 1 d | - | - | 28 (nv 5–15) | - | same as above |
| 3 m 20 d | - | - | 18 (nv 5–15) | - | same as above |
| 5 m 9 d | 0.46 (nv < 2.5) | 1.5 (vn < 5) | 15.7 (nv < 12) | 19 (nv 9–39) | same as above |
| 7m 11 d | - | - | 21 (nv 5–15) | - | OHCbl im 5 mg (1 mL solution daily), betaine 400 mg × 3 daily, folic acid 5 mg × 2 weekly |
| 10 m 1 d | - | - | 24 (nv 5–15) | 33 (nv 9–42) | OHCbl im 5.5 mg (1.5 mL solution daily), betaine 500 mg × 3 daily, folic acid 5 mg × 2 weekly |
DBS, dried blood spot; C3, Propionylcarnitine; MMA, Methylmalonic acid; Met, Methionine; Hcy, homocysteine; OHCbl, hydroxocobalamin; m, month; d, day; nv, normal value.