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Genetics: Newborn screening for MCAD deficiency

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Vol 55: may • mai 2009 Canadian Family Physician•Le Médecin de famille canadien

487

Genetics

Genetics

Newborn screening for MCAD deficiency

June C. Carroll

MD

Clare A. Gibbons

MS

Sean M. Blaine

MD

Carol Cremin

MSc

Heather Dorman

MSc

Christina Honeywell

MSc

Wendy S. Meschino

MD

Joanne Permaul Judith Allanson

MD

M

edium 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 pre- vent sudden death or long-term disability.

Bottom line. Parents-to-be should be informed, preferably in the prenatal period, of newborn screen- ing for MCAD deficiency and other disorders. The panel of disorders screened for during that time var- ies by province—physicians should familiarize them- selves 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 arti- cles 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.

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.

acknowledgment

Funding was provided by the Canadian Institutes of Health Research.

CFPlus

GO

The English translation of this article, is available at www.cfp.ca. Click on CFPlus to the right of the article or abstract.

*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.

GENE MESSENGER

For more information on genetics topics, see www.mtsinai.on.ca/FamMedGen/

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