Table 1: Newborn screening acylcarnitines results and molecular analysis of MCADD patients identified by LC-MS/MS NBS since 2002.

PatientC8C6C10C10:1C8/C6C8/C10Nucleotide changesMutationsMutation references

14.020.670.39610.3c.253G>C/c.253G>Cp.Gly85Arg/p.Gly85ArgThis work/this work
215.361.851.7210.338.38.93c.356T>A/c.244dupTp.Val119Asp/p.Trp82Leufs*23This work/[19]
33.870.791.130.424.893.34c.728G>A/c.199T>Cp.Arg243Gln/p.Tyr67His[20]/[21]
49.51.150.830.648.2611.44c.823G>T/c.823G>Tp.Gly275 * /p.Gly275 * This work/this work
541.182.013.590.9520.4811.47c.356T>A/c.946-2A>Cp.Val119Asp/IVS10-2A>CThis work/[7]
613.421.441.140.489.3211.77c.985A>G/c.431_434delAGTAp.Lys329Glu/p.Lys144Ilefs*5[22]/[23]
71.30.320.870.554.061.49c.985A>G/c.127G>Ap.Lys329Glu/p.Glu43Lys[22]/[23]
86.961.241.260.545.615.52c.985A>G/c.799G>Ap.Lys329Glu/p.Gly267Arg[22]/[24]
98.790.760.690.511.5612.73c.985A>G/c.985A>Gp.Lys329Glu/p.Lys329Glu[22]/[22]
109.770.90.820.7210.8511.91c.985A>G/c.985A>Gp.Lys329Glu/p.Lys329Glu[22]/[22]
1126.73.353.030.97.978.81c.985A>G/c.985A>Gp.Lys329Glu/p.Lys329Glu[22]/[22]
1215.42.20.981.33715.71c.244dupT/c.244dupTp.Trp82Leufs*23/p.Trp82Leufs*23[19]/[19]
1325.12.532.411.489.9210.41c.244dupT/c.244dupTp.Trp82Leufs*23/p.Trp82Leufs*23[19]/[19]
140.750.180.040.354.1618.75c.244dupT/c.244dupTp.Trp82Leufs*23/p.Trp82Leufs*23[19]/[19]

Acylcarnitines normal values: C8 0.31  mol/L, C6 < 0.25  mol/L, C10 < 0.36  mol/L, C10:1 < 0.50  mol/L, C8/C6 0.85–3  Mmol/L, and C8/C10 0.33–1.6  Mmol/L.
ACADM gene reference sequence NM_000016.4; in bold characters are indicated the new mutations found.