Medium-chain acyl-CoA dehydrogenase deficiency: Molecular aspects

  title={Medium-chain acyl-CoA dehydrogenase deficiency: Molecular aspects},
  author={Yoichi Matsubara and Kuniaki Narisawa and Keiya Tada},
  journal={European Journal of Pediatrics},
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause Reye-like syndrome in children and sudden infant death. A point mutation of lysine329-to-glutamic acid329 substitution in the MCAD gene was recently identified as the most common mutation in patients with MCAD deficiency. This mutation is… CONTINUE READING