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Table 1 MS/MS screening profiles

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

MS/MS analytes Cut-off value (μmol/L) Possible disorder(s) Number of cases Ratio
Amino acids
 ↑PHE >  100 Phenylketonuria 29 2.21%
 ↑PHE/TYR >  1.5    
 ↑MET >  55 Hypermethioninemia 53 4.04%
 ↑MET/PHE >  0.95 Cystathionine-γ-lyase deficiency 36 2.74%
 ↑LEU >  300 Maple syrup urine disease 14 1.07%
 ↑LEU/PHE >  5.46    
 ↑VAL > 300    
 ↑TYR > 290 Tyrosinemia 101 7.69%
 ↑TYR/PHE > 7    
 ↑SA > 1 Tyrosinemia type I 22 1.68%
 ↑CIT > 40 Citrullinemia 22 1.68%
 ↑CIT/PHE > 0.7    
 ↑ARG > 60 Argininemia 37 2.82%
 ↓CIT < 7 Carbamoyl-phosphate synthase deficiency 139 10.59%
 ↑ORN > 350 Hyperornithinemia 27 2.06%
 ↑PRO > 420 Hyperprolinemia 30 2.28%
Organic Acids
 ↑C3 > 4 Methylmalonic acidemia 121 9.22%
 ↑C3/C2 > 0.17 Propionic acidemia 34 2.59%
 ↑C3DC + C4OH > 0.35 Malonic acidemia 15 1.14%
 ↑C4 > 0.45 Glutaric acidemia type II 2 0.15%
 ↑C5 > 0.43 Isovaleric acidemia 138 10.51%
 ↑C5/C2 > 0.04    
 ↑C5DC + C6OH > 0.2 Glutaric acidemia type I 1 0.08%
 ↑C4DC + C5OH > 0.4 3-methylcrotonyl-CoA carboxylase deficiency 14 1.07%
Multiple carboxylase deficiency 90 6.85%
 ↑(C4DC + C5OH)/C8 > 11 3-OH-3-methylglutaryl-CoA lyase deficiency 12 0.91%
 ↑C5:1 > 0.02 Beta-ketothiolase deficiency 9 0.69%
 ↑C8 > 0.15    
Fatty acid oxidation disorders
 ↓C0 <  10 Carnitine uptake defect 216 16.45%
 ↑C0 >  50 Carnitine palmitoyltransferase I deficiency 10 0.76%
 ↑C0/(C16 + C18) >  45    
 ↓C16 <  0.45    
 ↑C4 >  0.45 Short-chain acyl-CoA dehydrogenase deficiency 24 1.83%
 ↑C4/C2 >  0.03 Ethylmalonic encephalopathy 65 4.95%
 ↑C8 >  0.15 Medium-chain acyl-CoA dehydrogenase deficiency 22 1.68%
 ↑C8/C10 >  1.5    
 ↑C6 >  0.1    
 ↑C10:1 >  0.15    
 ↑C14:1 >  0.25 Very long-chain acyl-CoA dehydrogenase deficiency 9 0.69%
 ↑C14:1/C16 >  0.09    
 ↑C14 >  0.4    
 ↑C16 >  6.5 Carnitine palmitoyltransferaseII deficiency 3 0.23%
 ↑C18 >  1.9 Carnitine-acylcarnitine translocase deficiency 5 0.38%
 ↑C18:1 >  3.5    
 ↑C16OH >  0.04 Long-chain hydroxyacyl-CoA dehydrogenase deficiency 4 0.30%
 ↑C18OH >  0.03 Trifunctional protein deficiency 9 0.69%
 ↑C18:1OH >  0.05