Table 1 Biochemical data of two siblings with mild MCAD deficiency

Confirmatory testing

Acylcarnitines in dried blood spots (at different time points)

C6

0.06–0.27 μmol/l

0.13–0.38 μmol/l

<1 μmol/l

C8

0.11–1.56 μmol/l

0.31–1.5 μmol/l

<0.4 μmol/l

C10 (including C4:1-DC)

0.07–0.74 μmol/l

0.16–0.93 μmol/l

<0.2 μmol/l

C10:1

0.07–0.63 μmol/l

0.13–0.7 μmol/l

<0.2 μmol/l

[C8]/[C10]

1.2–2.46

1.62–2.86

<5

[C8]/[C12]

4.97–19.3

6.46–17.1

<5

[C8]/[C2]

0.01–0.09

0.02–0.4

<0.02

Urinary organic acids (at different time points)

Hexanoylglycine

+/ n.d.

+/ n.d.

n.d.

Isohexanoylglycine

+/ n.d.

+/ n.d.

n.d.

Suberylglycine

+/ n.d.

+/ n.d.

n.d.

Dicarboxylic acids

Not elevated

Not elevated

Enzyme activity measurements in lymphocytes

Octanoyl-CoA-oxidation

17 % (during fever)

24 % (without fever)

100 %

13 % (during fever)