Table 2.
Altered biomarkers in genetic and acquired conditions
| Biomarkers | Genetic conditions | Acquired conditions | ||
|---|---|---|---|---|
| N/total N | Percentage % | N/total N | Percentage % | |
| (A) Primary biomarkers | ||||
| C3 | 17/21 | 80 | 117/144 | 81 |
| C3/C2 | 14/21 | 67 | 32/144 | 22 |
| C3/Met | 12/21 | 57 | 24/144 | 17 |
| C17 | 9/21 | 43 | 17/144 | 12 |
| Low Met | 2/21 | 9.5 | 10/144 | 7 |
| High Met | 3/21 | 14 | 2/144 | 1.4 |
| (B) Second-tier test biomarkers* | ||||
| MMA | 11/19 | 58 | 78/130 | 60 |
| Hcys | 9/19 | 47 | 113/130 | 87 |
| MCA | 10/19 | 53 | 6/130 | 5 |
C3 propionylcarnitine, C2 acetylcarnitine, Met Methionine, C17 heptadecanoylcarnitine, MMA methylmalonic acid, Hcys homocysteine, MCA methylcitric acid, N number of diagnosed cases with altered biomarker, total N total number of diagnosed cases