Developed by top pediatric hospitalists, Caring for the Hospitalized Child: A Handbook of Inpatient Pediatrics, 3rd Edition, is sure to become your go-to resource from initial patient evaluation all the way through discharge management. Quickly obtain the essential information for managing a wide range of pediatric medical conditions in patients who have been admitted to the hospital with this trusted, pocket-sized reference. Available for purchase at https://www.aap.org/caring-for-the-hospitalized-child-a-handbook-of-inpatient-pediatrics-3rd-edition-paperback/
43: Inborn Errors of Metabolism
-
Published:May 2023
Sridaran Narayanan, MD, FAAP, Tamanna Roshan Lal, MB ChB, FAAP, FACMG, "Inborn Errors of Metabolism", Caring for the Hospitalized Child: A Handbook of Inpatient Pediatrics, American Academy of Pediatrics Section on Hospital Medicine, Jeffrey C. Gershel, MD, FAAP, Daniel A. Rauch, MD, FAAP, SFHM
Download citation file:
Inborn errors of metabolism (IEMs) encompass deficiencies of enzymes or cofactors that normally aid in the breakdown of carbohydrates, proteins, fats, and other molecules. These defects can cause a buildup of potentially toxic metabolites and a defect in energy production, most commonly leading to hypoglycemia, hyperammonemia, and/or anion gap metabolic acidosis. State newborn screening programs aid in the early diagnosis and treatment of many, but not all, of these illnesses. A patient with an IEM is at highest risk for morbidity or mortality when caloric intake (especially glucose) is poor or when there is an intercurrent illness. They are then...
