Table 3 Variable phenotypes and factors in 130 patients with MMACHC c. 609G > A homozygous mutation
Symptoms and signs | Cases | Age at onset | Age at treatment initiation | Time delays from onset to treatment initiation | Urinary methylmalonic acid pre-treatment | Blood tHcy pre-treatment | Blood methionine pre-treatment | |
|---|---|---|---|---|---|---|---|---|
(months) | (months) | (months) | (mmol/mol creatinine) | (μmol/L) | (μmol/L) | |||
n | Median (P25, P75) | Median (P25, P75) | Median (P25, P75) | Median (P25, P75) | Median (P25, P75) | Median (P25, P75) | ||
Seizures | N | 65 | 3.0 (1.0, 15.0) | 6.5 (2.0, 34.0) | 1.5 (0.0, 18.3) | 184.7 (43.5, 560.1) | 99.8 (73.7, 129.6) | 9.7 (7.0, 20.4) |
Y | 65 | 2.0 (0.9, 5.0) | 5.5 (3.0, 27.0) | 2.3 (1.0, 12.0) | 493.4 (259.9, 906.8) | 96.0 (58.8, 151.7) | 16.0 (10.4, 21.5) | |
Z | −1.407 | −0.031 | −0.893 | −2.239 | − 0.304 | − 0.87 | ||
P | 0.159 | 0. 975 | 0.372 | 0.025 | 0.761 | 0.406 | ||
Developmental delay | N | 38 | 1.0 (0.7, 3.0) | 3.0 (1.5, 5.5) | 1.5 (0.9, 2.3) | 164.6 (35.0, 664.9) | 102.9 (65.3, 142.6) | 16.0 (9.4, 20.4) |
Y | 92 | 3.0 (1.0, 12) | 12.0 (3.3, 36) | 6.0 (0.5, 25.0) | 443.6 (199.2, 722.1) | 88.0 (59.1, 147.7) | 10.4 (6.5, 22.6) | |
Z | −2.892 | −3.746 | − 2.017 | −1.481 | −0.313 | − 0.707 | ||
P | 0.004 | < 0.001 | 0.044 | 0.14 | 0.754 | 0.503 | ||
Hydrocephalus | N | 108 | 2.0 (1.0, 10.0) | 8.0 (3.0, 34.0) | 2.0 (0.5, 18.0) | 282.1 (76.7, 768.1) | 93.0 (63.0, 143.7) | 14.0 (8.1, 20.4) |
Y | 22 | 2.0 (1.0–4.0) | 4.0 (2.8–0.5) | 1.8 (0.9–6.8) | 500.0 (257.3–560.1) | 101.0 (59.1–161.9) | 14.0 (5.7–21.5) | |
Z | −0.487 | −0.92 | − 0.531 | − 0.608 | −0.546 | − 0.445 | ||
P | 0.626 | 0.357 | 0.595 | 0.552 | 0.593 | 0.695 | ||
Anemia | N | 93 | 3.0 (1.0, 7.8) | 8.0 (3.0, 34) | 3.0 (0.0, 24) | 292.6 (92.3, 676.1) | 87.2 (58.8, 127.1) | 13.8 (7.4, 22.3) |
Y | 37 | 2.0 (1.0, 5.0) | 3.0 (2.0, 18.0) | 1.5 (1.0, 9.0) | 442.3 (97.0, 672.9) | 137.3 (74.3, 164.9) | 12.2 (6.7, 16.2) | |
Z | −0.622 | −2.185 | −0.777 | −0.014 | −2.172 | − 0.64 | ||
P | 0.534 | 0.029 | 0.437 | 0.989 | 0.03 | 0.56 | ||