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References

These sources were used to develop the Genetics Home Reference condition summary on medium-chain acyl-CoA dehydrogenase deficiency.

Derks TG, Reijngoud DJ, Waterham HR, Gerver WJ, van den Berg MP, Sauer PJ, Smit GP. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr. 2006 May;148(5):665-670. PubMed citation
Dezateux C. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome. Eur J Pediatr. 2003 Dec;162 Suppl 1:S25-8. Epub 2003 Nov 20. Review. PubMed citation
Gene Review: Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med. 2006 Apr;8(4):205-12. Review. PubMed citation
Hsu HW, Zytkovicz TH, Comeau AM, Strauss AW, Marsden D, Shih VE, Grady GF, Eaton RB. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Pediatrics. 2008 May;121(5):e1108-14. doi: 10.1542/peds.2007-1993. PubMed citation
Joy P, Black C, Rocca A, Haas M, Wilcken B. Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome. Child Neuropsychol. 2009 Jan;15(1):8-20. doi: 10.1080/09297040701864570. PubMed citation
Lang TF. Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). J Inherit Metab Dis. 2009 Dec;32(6):675-83. doi: 10.1007/s10545-009-1202-0. Epub 2009 Oct 11. Review. PubMed citation
Scriver, Charles R; The metabolic & molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001. p2311-2315.
Wang SS, Fernhoff PM, Hannon WH, Khoury MJ. Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med. 1999 Nov-Dec;1(7):332-9. PubMed citation