Figure 2

De novo individual acylcarnitine synthesis by whole blood samples from the mild MCADD patient, a healthy control and a adult carrier (top panels), and from patients with classical MCADD (bottom panels). De novo acylcarnitine synthesis rates generated from deuterated palmitate in the presence of added L-carnitine by whole blood samples and derived C8/C4 acylcarnitine production rates have been determined in patient (compound heterozygous for c.985A>G and c.145C>G ACADM mutations) and a adult healthy volunteer and is compared to the same exploration performed in a adult carrier for the c.985A>G ACADM mutation (see top panels). The series of bottom panels report results of these measurements in individual patients with the classical form of MCADD and with proven homozygocy for the c.985A>G ACADM gene mutation. Formations of individual [D5]-acylcarnitines in whole blood samples are relative median rates expressed as percentages of median control values (framed profiles). The ratio between the rates of production of the major C8-acylcarnitine and the C4-acylcarnitine is expressed as relative median units, i.e. as the number of fold (and not the number of percents of) median control values. Values of C8 acylcarnitine production rates in disrupted histograms are given at the top of these histograms, and values for C8/C4 acylcarnitine ratios are given below each ratio histogram. The 5^th to 95^th percentile range for relative median production rate values is given in back position of each framed series of acylcarnitine production rates. The 5^th to 95^th percentile range for relative median C8/C4 acylcarnitine ratios is represented by the small green rectangle present at the basis of each C8/C4 ratio histogram and was exceeded by all MCADD patient values but neither carrier nor control values.