A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

@article{Andresen1993ARD,
  title={A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).},
  author={Brage S Andresen and Peter Alexander. Bross and Tina Gudrun Jensen and Vibeke Winter and Inga Knudsen and Steen K{\o}lvraa and Uffe Birk Jensen and Lars Bolund and M. X. Pe{\~n}a Dur{\'a}n and Jeong Joo Kim},
  journal={American journal of human genetics},
  year={1993},
  volume={53 3},
  pages={
          730-9
        }
}
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a serious and potentially fatal inherited defect in the beta-oxidation of fatty acids. Approximately 80% of patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985). The remaining patients (except for a few cases worldwide) are compound heterozygous with G985 in one allele. By sequencing of cloned PCR-amplified MCAD cDNA from a G985 compound heterozygous patient, we identified a C-to-T transition at… CONTINUE READING

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