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

Case 1 to 18 were identified in NBS, with the exception of 4 and 8.1Relative 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).2First 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 0.30.3Parents of 12.4Parents of 16.5Intervening sequences: IVS2-32C>G, IVS3+10T>C, IVS5+32C>G, IVS7-22C>A.6Intervening sequences: IVS2-32C>G, IVS3+10T>C, IVS5+32C>G, IVS6-14A>G and IVS7-22C>A.7subjects with clinical suspicion of MCADD.