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Table 2 Abnormal MS/MS results of aminoacidemias

From: Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China

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