Table 1 Clinical characteristics of the patients carrying c.1663G > A (p.A555T)
Case no | Sex | Age | NS | Age of beginning to treat | Disease onset | Age at onset | Current health status | Hydroxocobalamin effective |
|---|---|---|---|---|---|---|---|---|
P1 | F | 13 ys | Yes | 1 m | No | – | Healthy | Yes |
P2 | M | 5 ys | Yes | 4 ms | No | – | Healthy | Yes |
P3 | M | 3 ys | Yes | 3 ms | No | – | Healthy | Yes |
P4 | F | 3 ys | Yes | 1 m | No | – | Healthy | Yes |
P5 | M | 1 y | Yes | 3.7 ms | No | – | Healthy | Yes |
P6 | M | 11 ms | Yes | 1 m | No | – | Healthy | Yes |
P7 | M | 1 y | Yes | 1 m | No | – | Healthy | Yes |
P8 | F | 2.5 ys | Yes | 1 m | No | – | Healthy | Yes |
P9 | M | 4 ys | No | 23 ms | Yes | DD | Intellectual impairment | Yes |
P10 | F | 4 ys | Yes | 1.7 ms | No | – | Healthy | Yes |
P11 | F | 8 ms | Yes | 1 m | No | – | Healthy | Yes |
P12 | M | 7 ms | Yes | 1 m | No | – | Healthy | Yes |
P13 | F | 3.4 ys | No | 3ys | No | – | Healthy | Not used |
P14 | F | 3 ys | Yes | 2 ms | No | – | Healthy | Yes |
P15 | F | 4 ys | Yes | 1y | Yes | DD | Intellectual impairment | Yes |
P16 | M | 3 ys | Yes | 1.3 ms | No | – | Healthy | Yes |
P17 | M | 2 ys | Yes | 1.3 ms | No | – | Healthy | Yes |
P18 | M | 8 ys | No | 4.5ys | Yes | DD | Intellectual impairment | Yes |
P19 | F | 3.5 ys | Yes | 1 m | Yes | 1.8y | Healthy | Yes |
P20 | M | 4.2 ys | Yes | 4 ms | No | – | Loss of follow up | Yes |
P21 | M | 3 ys | Yes | 1.4 ms | No | – | Healthy | Yes |
P22 | M | 2 ys | Yes | 1 m | No | – | Healthy | Yes |
P23 | F | 1 ys | Yes | 4 ms | No | – | Healthy | Yes |
P24 | M | 1.6 ys | Yes | 1.3 ms | Yes | DD | Developmental delay | Yes |
P25 | F | 2.6 ys | Yes | 20 ds | No | – | Healthy | Yes |
P26 | F | 2.5 ys | Yes | 2 ms | No | – | Healthy | Yes |
P27 | F | 1 ys | Yes | 1 m | No | – | Healthy | Yes |
P28 | M | 2 ys | Yes | 1 m | No | – | Healthy | Yes |
P29 | M | 2 ys | Yes | 16 ms | Yes | 16 ms | Healthy | Yes |
P30 | M | 14 ys | No | 2.5 ms | Yes | 1 m | Loss of follow up | Yes |
Case no | On presentation | After treatment | Mutation 1 | Mutation 2 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
C3 | C3/C2 | Methylmalonic acid | Methylcitric acid | C3 | C3/C2 | Methylmalonic acid | Methylcitric acid | |||
P1 | 7.92 | 0.69 | 566.23 | 4.38 | 3.29 | 0.26 | 22.40 | 1.27 | c.1663G > A, p.A555T | c.729_730insTT, p.D244Lfs*39 |
P2 | 6.06 | 0.31 | 2.31 | 1.92 | 3.88 | 0.23 | 4.55 | 1.75 | c.1663G > A, p.A555T | c.729_730insTT,p.D244Lfs*39 |
P3 | 4.89 | 0.33 | 4.62 | – | 2.967 | 0.16 | <1 | 0.27 | c.1663G > A, p.A555T | c.729_730insTT,p.D244Lfs*39 |
P4 | 6.98 | 0.69 | 84.50 | – | 6.781 | 0.354 | 47 | 1.1 | c.1663G > A, p.A555T | c.729_730insTT,p.D244Lfs*39 |
P5 | 4.95 | 0.32 | 18 | 1.08 | 2.51 | 0.08 | 9.44 | <1 | c.1663G > A, p.A555T | c.729_730insTT,p.D244Lfs*39 |
P6 | 7.88 | 0.49 | 27 | 1.1 | 8.52 | 0.16 | 30 | 1.62 | c.1663G > A, p.A555T | c.729_730insTT,p.D244Lfs*39 |
P7 | 3.8 | 0.52 | 228.11 | 9.68 | 1.83 | 0.1 | 2.1 | <1 | c.1663G > A, p.A555T | c.729_730insTT,p.D244Lfs*39 |
P8 | 6.67 | 0.69 | 94.31 | – | 2.20 | 0.17 | 0.90 | – | c.1663G > A, p.A555T | c.1106G > A,p.R369H |
P9 | 3.86 | 0.34 | 6.2 | 0 | 3.3 | 0.25 | 0.3 | <1 | c.1663G > A, p.A555T | c.1106G > A,p.R369H |
P10 | 7.11 | 0.72 | 124.80 | – | 2.15 | 0.28 | 2.06 | 0.36 | c.1663G > A, p.A555T | c.1106G > A,p.R369H |
P11 | 5.82 | 0.18 | 20.09 | 2.2 | 1.31 | 0.07 | 1.32 | 0.56 | c.1663G > A, p.A555T | c.1106G > A,p.R369H |
P12 | 4.63 | 0.23 | 34.6 | 1.4 | 1.903 | 0.113 | 18.9 | – | c.1663G > A, p.A555T | c.2131G > T,p.E711X |
P13 | 3.97 | 0.27 | 5.7 | 0.8 | 6.3 | 0.22 | 15 | 0.9 | c.1663G > A, p.A555T | c.2131G > T,p.E711X |
P14 | 5.02 | 0.38 | – | – | 3.8 | 0.2 | – | – | c.1663G > A, p.A555T | c.2131G > T,p.E711X |
P15 | 9.72 | 0.51 | 38.96 | 1.2 | 7.17 | 0.26 | 4.28 | 0.53 | c.1663G > A, p.A555T | c.424A > G,p.T142A |
P16 | 4.86 | 0.37 | 9.27 | 1.33 | 2.188 | 0.09 | <1 | 0.11 | c.1663G > A, p.A555T | c.424A > G,p.T142A |
P17 | 8.65 | 0.7 | 133.91 | 2.26 | 5.87 | 0.2 | – | – | c.1663G > A, p.A555T | c.494A > G,p.D165G |
P18 | 3.01 | 0.19 | 43.77 | – | 2.46 | 0.11 | 1.1 | <1 | c.1663G > A, p.A555T | c.613G > A,p.E205K |
P19 | 7.81 | 0.92 | 100.08 | 3.78 | 5.42 | 0.3 | 3 | 0.13 | c.1663G > A, p.A555T | c.626dupC,p.K210X |
P20 | 4.13 | 0.69 | 63.82 | 0.42 | 4.30 | 0.30 | 85.17 | 4.2 | c.1663G > A, p.A555T | c.755_756insA,p.H252Qfs*6 |
P21 | 6.76 | 0.62 | 286.19 | 4.22 | 2.92 | 0.06 | 12.77 | 1.01 | c.1663G > A, p.A555T | c.914T > C,p.L305S |
P22 | 6.54 | 0.33 | 92.69 | 2.58 | 1.96 | 0.06 | 13.4 | 0.6 | c.1663G > A, p.A555T | c.1207C > T,p.R403* |
P23 | 5.94 | 0.45 | 43.25 | – | 2.384 | 0.149 | 3.25 | <1 | c.1663G > A, p.A555T | c.1233_1235delCAT,p.I411- |
P24 | 5.85 | 0.39 | 22.31 | 1.5 | 7.26 | 0.15 | 2.93 | 0.63 | c.1663G > A, p.A555T | c.1280G > A,G427D |
P25 | 4.1 | 0.34 | 8.5 | 0 | 7.41 | 0.2 | 33 | 1.1 | c.1663G > A, p.A555T | 1679G > A,C560Y |
P26 | 2.4 | 0.32 | 45.6 | 1.07 | 1.78 | 0.1 | <1 | <1 | c.1663G > A, p.A555T | c.2009G > T,p.G670V |
P27 | 5.82 | 0.30 | 28.80 | 2.16 | 4.426 | 0.133 | 3.79 | <1 | c.1663G > A, p.A555T | E13 deletion |
P28 | 4.71 | 0.41 | 29.7 | 0.7 | 4.93 | 0.2 | 77.7 | 2 | c.1663G > A, p.A555T | Not detected |
P29 | 4.67 | 0.34 | 174.7 | 0.89 | 3.16 | 0.13 | 7.25 | <1 | c.1663G > A, p.A555T | Not detected |
P30 | 6.55 | 0.85 | – | – | 1.85 | 0.31 | – | – | c.1663G > A, p.A555T | Not detected |