Table 1 MS/MS screening profiles

Amino acids

↑PHE

> 103.18

Phenylketonuria

↑PHE/TYR

> 1.43

BH4 deficiency

↑MET

> 64.11

Homocystinuria

↑MET/PHE

> 0.92

↑LEU

> 327.51

Maple syrup urine disease

↑LEU/PHE

> 4.85

↑VAL

> 433.56

↑TYR

> 305.87

Tyrosinemia

↑TYR/PHE

> 4.00

↑CIT

> 37.35

Citrullinemia

↑CIT/PHE

> 0.70

Neonatal intrahepatic cholestasis caused by citrin deficiency

↑ARG

> 40.77

Argininemia

↑ARG/ORN

> 0.70

↓CIT

< 6.05

Ornithine transcarbamylase deficiency

↑ORN

> 393.08

Organic Acids

↑C3

> 4.33

Methylmalonic acidemia

↑C3/C2

> 0.20

Propionic acidemia

± C4DC

> 1.92

↑C3DC

> 0.14

Malonic acidemia

↑C3DC/C4

> 0.80

↑C4

> 0.92

Glutaric acidemia type II (multiple acyl-CoA dehydrogenase

↑C5

> 0.69

deficiency)

↑C8

> 0.33

↑C14

> 0.59

↑C16

> 6.13

↑C12

> 0.47

↑C5

> 0.69

Isovaleric acidemia

↑C5/C2

> 0.03

↑C5DC

> 0.14

Glutaric acidemia type I

↑C5DC/C8

> 2.50

↑C5OH

> 0.73

3-methylcrotonyl-CoA carboxylase deficiency

↑C 5OH/C3

> 0.13

3-OH-3-methylglutaryl-CoA lyase deficiency

(± C5:1)

> 0.12

Multiple carboxylase deficiency

(± C6DC)

> 0.14

(± C3)

> 4.33

↑C5:1(± C5OH)

> 0.12

β-Ketothiolase deficiency

Fatty acid oxidation defects

↓ C0

< 15.0

Primary carnitine deficiency

↓C2

< 9.82

↑C0

> 90.0

Carnitine palmitoyltransferase I deficiency

↑C0/(C16 +

> 30.00

C18)

↓C16

< 0.75

↑C4

> 0.92

Short-chain acyl-CoA dehydrogenase deficiency

↑C4/C2

> 0.40

↑C8

> 0.33

Medium-chain acyl-CoA dehydrogenase deficiency

↑C8/C10

> 0.37

(± C6

(> 0.33

C10:1)

> 0.29)

↑C14:1

> 0.39

Very long-chain acyl-CoA dehydrogenase deficiency

↑C14:1/C16

> 0.29

(± C14

C16, C18:1)

↑C16

> 6.13

Carnitine palmitoyltransferase II deficiency

↑C18

> 2.68

Carnitine-acylcarnitine translocase deficiency

↑C18:1

> 2.7

↑C16OH

> 0.21

Long-chain hydroxyacyl-CoA dehydrogenase deficiency

↑C18OH

> 0.17

Trifunctional protein deficiency

↑C18:1OH

> 0.15