Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

@article{Andresen2001MediumchainAD,
  title={Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.},
  author={Brage S Andresen and Steven F. Dobrowolski and Lucille O'Reilly and Joseph Muenzer and Shawn E. McCandless and Dianne M. Frazier and S Udvari and Peter Bross and Inga Knudsen and Richard Allan Banas and Donald H. Chace and P. Engel and Edwin W. Naylor and N. Gregersen},
  journal={American journal of human genetics},
  year={2001},
  volume={68 6},
  pages={1408-18}
}
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently diagnosed mitochondrial beta-oxidation defect, and it is potentially fatal. Eighty percent of patients are homozygous for a common mutation, 985A-->G, and a further 18% have this mutation in only one disease allele. In addition, a large number of rare disease-causing mutations have been identified and characterized. There is no clear genotype-phenotype correlation. High 985A-->G carrier frequencies in populations of… CONTINUE READING
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