Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T

Table 1

Plasma concentration of C8 acylcarnitines in the proband and the three children.

Patient	Acylcarnitine profile C8 (μM), first test	Acylcarnitine profile C8 (μM), second test
I-1	3.2 (ref. range 0.02–0.30)
II-1	13.3 (ref. range < 0.4)	0.36 (ref. range < 0.11)
II-2	4.23 (ref. range < 0.4)	6.76 (ref. range < 0.16)
II-3	9.7 (ref. range < 0.47)	3.58 (ref. range 0.02–0.31)