Table 2 Abnormal MS/MS results of aminoacidemias
Aminoacidemias (n = 19) | n (%) | Age at Diagnosis (day) | Abnormal parameter | Concentration mean (range)(μmol/l) | Reference range (μmol/l) | Mutated gene |
|---|---|---|---|---|---|---|
Phenylketonuria (PKU) | 16(84.2) | 10-40 | Phe | 987.39 (139.92-2607.82) | 21-100 | PAH, PTS |
Phe/Tyr | 15.66 (1.75-37.76) | 0.12~ 1.1 | ||||
Argininemia (ARG) | 2(10.5) | 41-48 | Arg | 92.24 (73.97-110.50) | 1.5-65 | – |
Cystathionine-γ-lyase deficiency | 1(5.3) | 35 | MET | 87.97 | 11-45 | MAT1A |
MET/PHE | 2.81 | 0.2-0.8 |