Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive fatty acid oxidation disorder, with an incidence rate of up to 1 in 12 000. Early diagnosis and treatment might prevent sudden death or long-term disability.
Bottom line
Parents-to-be should be informed, preferably in the prenatal period, of newborn screening for MCAD deficiency and other disorders. The panel of disorders screened for during that time varies by province—physicians should familiarize themselves with their local newborn screening programs.
The complete Gene Messenger—Newborn Screening for MCAD Deficiency by the GenetiKit research team is available on CFPlus.* Past Gene Messenger articles can be accessed on-line at www.cfp.ca. On the home page, click on Collections in the left-hand menu, then click on Genetics.
Acknowledgment
Funding was provided by the Canadian Institutes of Health Research.
Footnotes
Competing interests
None declared
The GenetiKit research team, a group of family physicians, genetic counselors and geneticists, designed the Gene Messenger series to provide practical information to help family physicians and their patients make informed choices about rapidly emerging genetic discoveries. The series is a collection of up-to-date, definitive, short reviews on genetics topics that have made headlines, and offers recommendations regarding referral for genetic services or testing.
The Gene Messenger on newborn screening for MCAD deficiency is available at www.cfp.ca. Go to the full text of this article on-line, then click on CFPlus in the menu at the top right-hand side of the page.