Case Report
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) |
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