Table 1 MS/MS screening profiles
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 | |||