Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD)

References

  1. Seymour, C. A., Thomason, M. J., Chalmers, R. A., Addison, G. M., Bain, M. D., Cockburn, F., Littlejohns, P., Lord, J., and Wilcox, A. H. Newborn screening for inborn errors of metabolism: a systematic review. Health Technology Assessment 1, 1-97. 1997.

  2. Pollitt, R. J., Green, A., McCabe, C. J., Booth, A., Cooper, N. J., Leonard, J. V., Nicholl, J., Nicholson, P., Tunaley, J. R., and Virdi, N. K. Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technology Assessment 1, 1-203. 1997. )

  3. Wilcken, B., Wiley, V., Hammond, J., Carpenter, K. Screening Newborns for Inborn Errors of metabolism by tandem Mass Spectrometry. N Engl J Med 2003;348:2304-12

  4. Zytkovicz, T. H. et al. Tandem Mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two year summary from the New England Newborn Screening Program. Clin. Chem. 2001;47:1, 1945-1955

  5. Schultze, A., Lindner, M., Kohlmuller, D., Oglemoller, K., Mayatepek, E., Hoffmann, G. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications. Pediatrics June 2003;Vol 111 No.6;1399-1406

  6. Pourfarzam, M., Morris, A., Appleton, M., Craft, A., Bartlett, K. Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. The Lancet Sept 29, 2001; 358:1063 -1064

  7. Waisbren, S., Albers, S., Amato, S., et al. Effect of expanded newborn screening for biochemical genetic disorders on childhood outcomes and parental stress. JAMA.2003;290:2564-2572

  8. Holtzman, N. Expanded newborn screening. How good is the evidence? JAMA.2003;290:2606-2608

  9. Seddon HR, Green A, Gray RGF, Leonard JV, Pollitt RJ. Regional variations in medium-chain acyl-CoA dehydrogenase deficiency. Lancet 1995;345:135-6

  10. Pollitt RJ, Leonard JV. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Archives of Disease in Childhood 1998;79:116-119