Newborn screening for MCAD deficiency

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.