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