Table 4 Abnormal MS/MS results of organic acidemias
Organic acidemias (26) | n (%) | Age at diagnosis | Abnormal parameters | Concentration mean (range) (μmol/l) | Reference range (μmol/l) |
|---|---|---|---|---|---|
Methylmalonic academia | 12 (46.2%) | 0.1-99 mon | C3 | 10.3 (5.1-28.77) | 0.47-4.33 |
| Â | Â | Â | C3/C2 | 0.79 (0.11-1.88) | 0.03-0.10 |
Propionic acidemia | 4 (15.4%) | 0.27-28 mon | C3 | 12.41 (8.27-13.8) | 0.47-4.33 |
| Â | Â | Â | C3/C2 | 1.31 (0.57-2.47) | 0.03-0.10 |
| Â | Â | Â | C5OH | 3.88 (2.12-5.64) | Â |
Multiple carboxylase deficiency | 4 (15.4%) | 5-60 mon | C3/C2 | 0.3 (0.290.31) | 0.0- -0.73 |
| Â | Â | Â | C3 | 6.58 (4.32-6.84) | Â |
Glutaric acidemia type I | 3 (11.5%) | 17-48 mon | C5DC | 1.84 (0.78-3.58) | 0.03-0.14 |
Isovaleric acidemia | 2 (7.7%) | 0.27-48 mon | C5 | 6.78 (4.21-9.35) | 0.0-0.69 |
HMG-CoA lyase deficiency | 1 (3.8%) | 8 mon | C5OH | 10.48 | 0.0-0.73 |