MCAD deficiency

Nov. 28, 2023
  1. Adam MP, et al., eds. Medium-chain acyl-coenzyme A dehydrogenase deficiency. In: GeneReviews. University of Washington, Seattle; 1993-2022. https://www.ncbi.nlm.nih.gov/books/NBK1116/. Accessed Feb. 2, 2022.
  2. Medium-chain acyl-coenzyme A dehydrogenase deficiency. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency. Accessed Jan. 20, 2023.
  3. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency full gene analysis. Mayo Clinic Laboratories. https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/35478. Accessed Feb. 2, 2022.
  4. Anderson DR, et al. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism. 2020; doi:10.1016/j.ymgme.2019.11.006.
  5. McGregor TL, et al. Management principles for acute illness in patients with medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics. 2021; doi:10.1542/peds.2020-040303.
  6. Piercy H, et al. "It's just always eating": The experiences of young people growing up medium chain acyl-CoA dehydrogenase deficiency. Global Qualitative Nursing Research. 2021; doi:10.1177/23333936211032203.
  7. Advisory Committees on Heritable Disorders in Newborns and Children. Recommended uniform screening panel. Health Resources & Services Administration. https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html. Accessed Jan. 21, 2023.
  8. Rucklova K, et al. Impact of newborn screening on early dietary management on clinical outcome of patients with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency and medium chain acyl-CoA dehydrogenase deficiency ⸺ A retrospective nationwide study. Nutrients. 2021; doi:10.3390/nu13092925.
  9. Medical review (expert opinion). Mayo Clinic. April 11, 2022.