Table 8 The abnormal amino acids/acylcarnitines in dried blood spots and organic acids in urine of the different disease types in the studied cases

1. UCD

20

• Arginine

124.7 ± 35.7 (99–142)

49

Not done

• Citrulline

98.4 ± 14.1 (83–126)

33

• Ornithine

625.8 ± 19.8 (602–654)

350

2. MSUD

18

• Leucine-isoleucine

361.9 ± 18.4 (318–378)

270

Not done

• Valine

377.1 ± 43.5 (327–406)

198

Not done

3. FAOD

15

• C6-carnitine

1.08 ± 0.6 (1.1–1.2)

< 0.16

Not done

• C8-carnitine

1.30 ± 0.9 (1.2–1.4)

< 0.18

Not done

• C10-carnitine

1.98 ± 0.5 (1.8–2.1)

< 0.26

Not done

• C12-carntine

1.76 ± 0.6 (1.7–1.9)

< 0.410

Not done

• C14-carnitine

1.64 ± 0.4 (1.6–1.7)

< 0.413

Not done

• C5-OH-carnitine

1.92 ± 0.3 (1.8–2.0)

< 0.8

Not done

• C16-carnitine

6.07 ± 0.6 (5.9–6.2)

< 5.06

Not done

• C18:1-carnitine

4.75 ± 2.9 (2.5–7.4)

< 3.50

Not done

4. THPN

15

• Phenylalanine

161.6 ± 18.9 (143–182)

84

Not done

5. OA

15

• Propionic acidemia

5.00 ± 0.6 (4.6–5.8)

4

↑3-Hydroxy-Propionic acid.

• Glutaric acidemia

0.93

0.34

↑3-Hydroxy glutaric acid

• β-ketothiolase Def.

–

–

↑Tiglylglycine

• Methylmalonic acid(C3)

4.00 ± 1.3 (2.9–5.2)

4

↑Methyl-malonic acid

• Methyl-crotonyl acidemia

8

1

↑Methyl-crotonyl acid

6. ST

4

• Tyrosine

648.5 ± 56.0 (589–714)

225

Not done

7. SG

3

• No

–

–

Not done

8. SMCD

1

• No

–

–

Not done

9. HGN

1

• Glycine

3500

717

Not done

10. DHDP

1

• No

–

–

Uracil and thiamine ↑