Table 2 Abnormal MS/MS results of aminoacidemias
Aminoacidemias (n = 27) | n (%) | Age at diagnosis | Abnormal parameter | Concentration mean (range) (μmol/l) | Reference range (μmol/l) |
|---|---|---|---|---|---|
Phenylketonuria | 11 (40.7%) | 1.4-135.6 mon | Phe | 798.80 (216-1229) | 28.08-103.18 |
| Â | Â | Â | Phe/Tyr | 9.01 (2.02-19.87) | 0.15-3.0 |
Maple syrup urine disease | 5 (18.5%) | 2-26 d | Leu | 3,390.57 (2,832.99-4,098.79) | 88.26-327.51 |
| Â | Â | Â | Val | 600.51 (358-883) | 89.5-433.56 |
Neonatal intrahepatic cholestasis caused by citrin deficiency | 5 (18.5%) | 2-4 mon | Cit | 219.7 (89-318) | 6.05-37.35 |
Homocystinuria | 3 (11.11%) | 0.6-36 mon | Met | 335.5 (100-626) | 10.82-64.11 |
Ornithine transcarbamylase deficiency | 3 (11.11%) | 0.07-7 mon | Cit | 5.28 (5.15-5.45) | 6.05-37.35 |
| Â | Â | Â | Orn | 398.33 (312-452) | 47.53-393.08 |