Case no. | Sex | Age | NS | Age of beginning to treat | Disease onset | Age at onset | Current health condition | Hydroxocobalamin effective |
---|---|---|---|---|---|---|---|---|
C1 | M | – | No | 5ds | Yes | 3ds | Died (7ds) | Unevaluated |
C2 | M | 2 ys | No | 7ds | Yes | 3ds | Intellectual impairment | No |
C3 | M | 4.1 ys | Yes | 1 m | Yes | 3ds | Intellectual impairment | No |
C4 | M | 2.9 ys | Yes | 1 m | No | – | Healthy | Yes |
C5 | M | 2 ys | No | 20ds | Yes | 3ds | Intellectual impairment | No |
C6 | M | 2.8 ys | No | 15 ms | Yes | 3 ms | Intellectual impairment | Yes |
C7 | M | – | No | 3ds | Yes | 3ds | Died (10ds) | Unevaluated |
C8 | M | – | No | 2ds | Yes | 3ds | Died (7ds) | Unevaluated |
C9 | F | 12 ys | No | 20 ms | Yes | 20 ms | Intellectual impairment | Yes |
C10 | F | 7 ys | No | 12 ms | Yes | 12 ms | Intellectual impairment | No |
C11 | F | – | No | 2.5 ms | Yes | 3ds | Died (17 ms) | No |
C12 | F | 4 ys | No | 16 ms | Yes | 16 ms | Intellectual impairment | No |
C13 | M | 2.6 ys | Yes | 2 ms | Yes | 17 ms | Intellectual impairment | No |
C14 | F | 2 ys | Yes | 20ds | Yes | 12 ms | Healthy | No |
C15 | F | 1.5 ys | Yes | 7ds | Yes | 3ds | Developmental delay | Yes |
C16 | M | 1.5 ys | Yes | 1.3 ms | Yes | PDD | Developmental delay | No |
C17 | M | 2 ys | Yes | 2 ms | No | – | Loss of follow up | Unevaluated |
C18 | M | 7.5 ys | No | 8 ms | Yes | 6 ms | Intellectual impairment | No |
C19 | M | 5.5 ys | No | 7ds | Yes | 3ds | Intellectual impairment | Yes |
C20 | F | 1 y | Yes | 3 ms | Yes | 7ds | Developmental delay | No |
C21 | M | 9.5 ys | No | 7 ms | Yes | 7ds | Intellectual impairment | No |
C22 | F | 1.9 ys | Yes | 1 m | No | – | Healthy | Yes |
C23 | M | 3.3 ys | No | 7ds | Yes | 3ds | Died (18 ms) | No |
C24 | F | 13 ys | No | 46 ms | Yes | 46 ms | Healthy | No |
C25 | M | 2.5 ys | Yes | 20ds | Yes | 6 ms | Intellectual impairment | No |
C26 | M | – | No | 2 ms | Yes | 3ds | Died (5 ms) | No |
C27 | M | 4.8 ys | No | 17 ms | Yes | 12 ms | Intellectual impairment | No |
C28 | M | 2.5 ys | No | 6 ms | Yes | 3 ms | Intellectual impairment | Yes |
C29 | M | 6 ys | No | 12 ms | Yes | 12 ms | Intellectual impairment | Yes |
C30 | F | 4.5 ys | No | 6 ms | Yes | 5 ms | Intellectual impairment | No |
C31 | F | 2.4 ys | Yes | 1 m | Yes | 15 ms | Intellectual impairment | No |
C32 | F | 3 ys | Yes | 2 ms | No | – | Healthy | Yes |
C33 | M | 4 ys | No | 4 ms | Yes | 4 ms | Intellectual impairment | No |
C34 | M | 1.6 ys | Yes | 10ds | Yes | 7ds | Developmental delay | Yes |
C35 | F | 1.8 ys | Yes | 10ds | Yes | 7ds | Developmental delay | Yes |
C36 | M | 3 ys | No | 16 ms | Yes | 8 m | Intellectual impairment | Yes |
Caseno | On Presentation | After treatment | Mutation 1 | Mutation 2 | ||||||
---|---|---|---|---|---|---|---|---|---|---|
C3 | C3/C2 | Methylmalonic acid | Methylcitric acid | C3 | C3/C2 | Methylmalonic acid | Methylcitric acid | |||
C1 | 13.33 | 1.00 | 301.36 | 63.64 | – | – | – | – | c.729_730insTT,p.D244Lfs*39 | c.729_730insTT,p.D244Lfs*39 |
C2 | 28.74 | 1.54 | 274.80 | 14.10 | 41.67 | 1.28 | 1937.12 | 60.23 | c.729_730insTT,p.D244Lfs*39 | c.729_730insTT,p.D244Lfs*39 |
C3 | 23.42 | 1.02 | 253.00 | 17.00 | 32.81 | 0.66 | 195.40 | 0.87 | c.729_730insTT,p.D244Lfs*39 | c.467A > T,p.D156V |
C4 | 6.20 | 0.32 | 62.00 | 1.58 | 7.30 | 0.37 | 34.60 | 2.00 | c.729_730insTT,p.D244Lfs*39 | c.446A > G,p.D149G |
C5 | 8.68 | 0.43 | 258.90 | 19.80 | 34.18 | 1.23 | 1062.27 | 30.91 | c.729_730insTT,p.D244Lfs*39 | c.1399c > T,p.R467* |
C6 | 7.80 | 0.26 | 319.00 | 41.80 | 21.90 | 0.47 | 130.00 | 4.50 | c.729_730insTT,p.D244Lfs*39 | c.1286A > G,p.Y429C |
C7 | 19.46 | 1.30 | 106.43 | 8.73 | – | – | – | – | c.729_730insTT,p.D244Lfs*39 | c.1153_1154delTT, p.L385Afs*6 |
C8 | 15.01 | 1.45 | 2541.20 | 84.00 | – | – | – | – | c.729_730insTT,p.D244Lfs*39 | c.1138G > A,p.G380R |
C9 | – | – | 1426.29 | 15.33 | 52.19 | 0.93 | <1 | 0.30 | c.1106G > A,p.R369H | c.1106G > A,p.R369H |
C10 | 15.92 | 1.03 | 869.83 | 10.09 | 12.75 | 0.74 | 701.72 | 8.56 | c.1106G > A,p.R369H | c.1530_1531insTT |
C11 | 10.93 | 2.10 | 402.98 | 40.68 | 18.96 | 0.96 | <1 | 33.41 | c.1106G > A,p.R369H | c.729_730insTT,p.D244Lfs*39 |
C12 | 43.71 | 0.60 | 7202.00 | – | 20.71 | 0.77 | 1068.00 | 5.51 | c.1106G > A,p.R369H | c.470T > A,p.V157D |
C13 | 9.46 | 0.82 | 448.50 | 16.20 | 18.12 | 0.54 | 867.31 | 5.87 | c.1106G > A,p.R369H | c.544dupA,p.M182Nfs*29 |
C14 | 10.32 | 0.54 | 704.12 | 12.30 | 47.88 | 0.89 | 354.51 | 3.17 | c.1106G > A,p.R369H | c.278G > A,p.R93H |
C15 | 18.00 | 1.10 | 523.23 | 5.52 | 39.07 | 1.40 | 382.44 | 5.40 | c.1106G > A,p.R369H | c.349G > T,p.E117* |
C16 | 21.10 | 0.79 | – | – | 29.94 | 0.95 | 1929.39 | 47.28 | c.2131G > T,p.E711* | c.1106G > A,p.R369H |
C17 | 2.16 | 0.37 | 36.97 | 3.26 | – | – | – | – | c.2131G > T,p.E711* | c.419T > G,p.L140P |
C18 | 4.76 | 0.36 | – | – | 26.68 | 0.53 | 790.1 | 3.1 | c.2131G > T,p.E711* | c.419T > G,p.L140P |
C19 | 11.81 | 0.43 | 9.83 | 0.00 | 17.68 | 0.67 | 103.00 | – | c.424A > G,p.T142A | c.914T > C,p.L305S |
C20 | 7.92 | 8.81 | – | – | 63.32 | 1.06 | – | – | c.424A > G,p.T142A | c.544_545insA,p.M182Nfs*29 |
C21 | 13.57 | 0.47 | 286.85 | – | 24.77 | 0.85 | 162.51 | – | c.424A > G,p.T142A | c.419T > C,p.L140P |
C22 | 9.00 | 1.80 | 10.90 | 5.58 | 24.83 | 0.44 | 263.77 | <1 | c.494A > G,p.D165G | c.1630_1631GG > TA, p.G544X |
C23 | 15.70 | 0.66 | 409.00 | 6.93 | 14.65 | 0.62 | 617.71 | 22.59 | c.494A > G,p.D165G | c.1106G > A,p.R369H |
C24 | 13.19 | 0.50 | – | – | 18.12 | 0.99 | 256.78 | 1.17 | c.613G > A,p.E205K | c.1677-1G > A |
C25 | 10.87 | 0.66 | 14.85 | 8.39 | 32.18 | 0.84 | 450.46 | 4.04 | c.613G > A,p.E205K | c.982C > T,p.L328F |
C26 | 10.33 | 0.72 | 422.84 | – | 34.03 | 1.06 | 495.00 | – | c.626dupC,p.K210X | c.1531C > T,p.R511X |
C27 | 21.77 | 0.53 | 453.76 | 10.21 | 12.15 | 0.99 | 145.40 | 5.54 | c.626dupC,p.K210X | c.1084-33delTTTC |
C28 | 18.53 | 0.55 | 130.60 | 12.70 | 32.09 | 0.88 | 0.64 | 14.80 | c.755_756insA,p.H252Qfs*6 | c.912-2A > T |
C29 | 4.70 | 0.38 | 278.00 | 1.70 | 33.07 | 1.08 | 1334.22 | 9.44 | c.914T > C,p.L305S | c.970G > A,p.A324T |
C30 | 4.83 | 0.51 | 422.73 | 2.89 | 16.86 | 0.91 | 1254.17 | 30.46 | c.914T > C,p.L305S | c.1677-1G > A |
C31 | 13.50 | 1.53 | 431.92 | 22.45 | 32.02 | 1.41 | 467.17 | 8.53 | c.914T > C,p.L305S | c.2062G > T,p.E688X |
C32 | 15.45 | 0.22 | 180.70 | – | 6.08 | 0.21 | 116.03 | 2.96 | c.1233_1235delCAT, p.I410- | c.2080C > T,p.R694W |
C33 | 6.66 | 0.76 | 165.30 | 4.00 | 12.24 | 0.81 | 146.72 | 0.75 | c.1280G > A,p.G42D | c.323G > A,p.R108H |
C34 | 13.61 | 0.85 | 284.80 | 21.20 | 30.22 | 1.08 | 744.63 | 5.94 | c.1280G > A,p.G42D | c.1677-1G > A |
C35 | 9.81 | 1.08 | 11,057.34 | 41.93 | 27.18 | 1.42 | 520.08 | 5.16 | c.1679G > A,p.C560Y | c.1850T > G,p.L617R |
C36 | 26.37 | 0.59 | 332.80 | 0.7 | 26.62 | 0.43 | 335.00 | 1.80 | c.2009G > T,c.2009G > T | c.729_730insTT,p.D244Lfs*39 |