Octanoyl-CoA oxidation, plasma medium-chain acylcarnitine levels and gene analysis of both <i>ACADM</i> alleles in subjects with suspected MCAD-deficiency.

<p>Case 1 to 18 were identified in NBS, with the exception of 4 and 8.</p>1<p>Relative residual MCAD enzyme activities are presented as a percentage of the mean of lymphocytes from healthy control (2.38 nmol · min⁻¹ · mg⁻¹, n = 6).</p>2<p>First octanoylcarnitine specimen (C8:0 I) obtained on day 2–5 of life and subsequent repeat specimen (C8:0 II) are shown in µmol · L⁻¹, cut-off was set at 0.30.</p>3<p>Parents of 12.</p>4<p>Parents of 16.</p>5<p>Intervening sequences: IVS2-32C>G, IVS3+10T>C, IVS5+32C>G, IVS7-22C>A.</p>6<p>Intervening sequences: IVS2-32C>G, IVS3+10T>C, IVS5+32C>G, IVS6-14A>G and IVS7-22C>A.</p>7<p>subjects with clinical suspicion of MCADD.</p

Plasma octanoyl-carnitine (C8:0) concentrations determined in dried blood spots during initial newborn screening and subsequent follow-up from patients carrying two confirmed <i>ACADM</i> mutations.

<p>Plasma octanoyl-carnitine (C8:0) concentrations determined in dried blood spots during initial newborn screening and subsequent follow-up from patients carrying two confirmed <i>ACADM</i> mutations.</p

Multiple Reactant Monitoring (MRM) chromatograms of quenched VLCAD assay samples.

<p>C16:OH-CoA, m/z 1022.4 → 515.2 (A and B) and C16:1-CoA, m/z 1004.4 → 497.2 (C and D) after 0 (A and C) and 5 (B and D) min. of incubation.</p