Inborn Errors of Metabolism: A Snapshot

Author(s): Courtney Allgeier, MS, RD, LD


Inborn errors of metabolism (IEM) are single gene defects that result in abnormalities in the synthesis or catabolism of proteins, carbohydrates or fats. Individually they are rare but together they are common with a collective incidence in ~ 1 in 3,000 live births. Nearly every IEM has several forms that vary in age of onset, clinical severity and mode of inheritance. IEMs represent one of the few genetic diseases where prompt recognition and treatment can significantly improve outcome and morbidity/mortality.
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Author Bios

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Courtney Allgeier is a registered dietitian working in Pediatric Nutrition Science at Abbott Nutrition. Courtney is a graduate of University of Kentucky, Lexington, KY and The Ohio State University, Columbus, OH. Prior to joining Abbott in 2007, Courtney practiced at Dayton Children’s Medical Center in Dayton, Ohio as a clinical pediatric dietitian specializing in inborn errors of metabolism. Courtney provides global nutrition science support for the metabolic line of products, Pedialyte, and PediaSure Peptide.
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