Table 4 Data of 41 long-term follow-up patients caused by the MMACHC c.609G > A homozygous mutation with seizures
Group of the patients | Uncontrolled | Seizure-free | Z | P | ||||
|---|---|---|---|---|---|---|---|---|
(n = 20) | (n = 21) | |||||||
Median | P25 | P75 | Median | P25 | P75 | |||
Age at onset (months) | 1 | 0.3 | 10.0 | 2 | 1.0 | 5.0 | −0.756 | 0.472 |
Age at treatment initiation (months) | 13 | 1.3 | 59.0 | 6.5 | 2.3 | 28.5 | −0.047 | 0.982 |
Time from onset to treatment initiation (months) | 8 | 1.3 | 52.0 | 5.5 | 0.7 | 23.3 | −0.875 | 0.39 |
Latest urinary methylmalonic acid | 20.5 | 6.1 | 75.0 | 16.5 | 12.4 | 47.9 | −0.279 | 0.802 |
Latest blood metabolic markers | ||||||||
Methionine (μmol/L) | 17.1 | 14.9 | 23.5 | 15.7 | 12.8 | 27.1 | −0.537 | 0.603 |
tHcy (μmol/L) | 82.9 | 58.2 | 96.6 | 51.4 | 36.2 | 66.0 | −2.413 | 0.015 |
Free carnitine (μmol/L) | 56.8 | 40.0 | 77.7 | 56.6 | 27.6 | 69.2 | −0.67 | 0.535 |
Acetylcarnitine (μmol/L) | 26.1 | 14.8 | 33.2 | 23.5 | 9.9 | 28.3 | −0.952 | 0.368 |
Propionylcarnitine (μmol/L) | 5.4 | 3.7 | 7.7 | 3.7 | 0.8 | 6.5 | −1.093 | 0.298 |
Propionylcarnitine/free carnitine ratio | 0.09 | 0.08 | 0.12 | 0.08 | 0.06 | 0.18 | −0.462 | 0.68 |
Propionylcarnitine/ acetylcarnitine ratio | 0.27 | 0.18 | 0.31 | 0.2 | 0.19 | 0.25 | −1.029 | 0.332 |