From: Betaine anhydrous in homocystinuria: results from the RoCH registry
CBS deficiency vitamin B6 responder (N = 9) | CBS deficiency vitamin B6 non-responder (N = 49) | MTHFR deficiency (N = 21) | Cbl metabolism defects (N = 45) | Total (N = 125)a | |
---|---|---|---|---|---|
Age, years | |||||
Mean ± SD | 34.41 ± 14.4 | 20.42 ± 12.3 | 18.14 ± 14.5 | 8.04 ± 10.3 | 16.80 ± 14.4 |
Median (min, max) | 39 (17.6, 56.9) | 18 (0.1, 55.5) | 20 (0.0, 56.5) | 6 (0.0, 44.33) | 14 (0.0, 56.9) |
Sex, n (%) | |||||
Female | 2 (22.2) | 18 (36.7) | 11 (52.4) | 22 (48.9) | 54 (43.2) |
Male | 7 (77.8) | 31 (63.3) | 10 (47.6) | 23 (51.1) | 71 (56.8) |
Age at onset of first symptoms, years | |||||
n | 9 | 41 | 20 | 44 | 114 |
Mean ± SD | 26.01 ± 14.7 | 5.79 ± 6.3 | 8.69 ± 12.8 | 3.02 ± 8.3 | 6.83 ± 10.9 |
Median (min, max) | 31 (0.8, 48.0) | 4 (0.0, 28.7) | 2 (0.0, 50.2) | 0 (0.0, 41.2) | 2 (0.0, 50.2) |
Age at diagnosis, years | |||||
n | 9 | 49 | 20 | 45 | 124 |
Mean ± SD | 28.10 ± 17.7 | 7.27 ± 6.2 | 10.32 ± 14.5 | 3.45 ± 9.2 | 8.21 ± 12.2 |
Median (min, max) | 31 (0.8, 56.6) | 6 (0.0, 28.7) | 5 (0.0, 56.5) | 0 (0.0, 42.2) | 4 (0.0, 56.6) |
Delay between onset of symptoms and diagnosis, years | |||||
n | 9 | 41 | 20 | 44 | 114 |
Mean ± SD | 2.10 ± 5.6 | 2.15 ± 3.2 | 1.62 ± 2.3 | 0.50 ± 1.5 | 1.42 ± 2.9 |
Median (min, max) | 0 (0.0, 17.0) | 1 (0.0,15.0) | 0 (0.0, 6.3) | 0 (0.0, 7.6) | 0 (0.0, 17.0) |
Total plasma homocysteine, μmol/L | |||||
n | 9 | 45 | 18 | 41 | 114 |
Mean ± SD | 118.29 ± 80.63 | 115 ± 72.86 | 146.2 ± 78.35 | 90.54 ± 56.6 | 111.29 ± 70.31 |
Median (min, max) | 96 (15.0, 249.9) | 98 (12.7, 277) | 122.3 (64.5, 389) | 71.5 (21.2, 228) | 95.45 (12.7, 389) |