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Table 1 Dried blood spot acylcarnitine results in each separate test

From: A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

Blood acylcarnitine concentrations (μmol/L)

Patient first testing

Patient second testing

Reference range

Free carnitine (C0)

9.77

10.98

9–50

Acetylcarnitine (C2)

2.04

8.48

2–50

Propionylcarnitine (C3)

0.08

0.40

0–4

Butyrlycarnitine (C4)

2.28

3.92

0–0.45

Isovalerylcarnitine (C5)

0.71

0.79

0–0.4

Glutarylcarnitine (C5DC)

0.42

0.85

0–0.2

Hexanoylcarnitine (C6)

0.20

0.78

0–0.1

Octanoylcarnitine (C8)

0.42

1.36

0.01–0.15

Decanoylcarnitine (C10)

0.31

0.62

0–0.25

Dodecanoylcarnitine (C12)

0.74

1.17

0–0.35

Tetradecanoylcarnitine (C14)

1.69

2.62

0–0.4

Hexadecanoylcarnitine (C16)

8.46

9.63

0.5–6.5

Octadecenoylcarnitine (C18)

2.34

2.22

0.25–2

  1. Black bold in the table indicates high acylcarnitine concentrations level compared with reference
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BMC Medical Genetics

ISSN: 1471-2350

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