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octanoylcarnitine

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English

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Noun

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octanoylcarnitine (uncountable)

  1. (organic chemistry) The N-octanoyl derivative of carnitine
    • 2015 July 30, Sarah C. Grünert et al., “Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening”, in BMC Medical Genetics[1], volume 16, →DOI:
      In a study with 34 MCAD deficient individuals evaluating the correlation between genotype and biochemical phenotype, patients homozygous for c.985A > G had the highest levels of neonatal octanoylcarnitine followed by compound heterozygotes of c.985A > G and other mutations.