The revised and updated second edition covers practical approaches to caring for healthy and high-risk infants. Available for purchase at https://www.aap.org/neonatalogy-for-primary-care-2nd-edition-paperback/
Chapter 31: Specific Congenital Metabolic Diseases
-
Published:January 2020
Angel Rios, MD, FAAP, Natasha Shur, MD, 2020. "Specific Congenital Metabolic Diseases", Neonatology for Primary Care, Deborah E. Campbell, MD, FAAP
Download citation file:
When evaluating a sick newborn, the physician has the challenge of distinguishing easily treatable and transient phenomena from life-threatening conditions. Newborns often exhibit nonspecific clinical signs and symptoms that are encountered in a wide array of disorders, including sepsis, delayed transition, congenital cardiac disease, endocrine disturbances, and inborn errors of metabolism (IEMs).
Because of their rarity, IEMs are not always initially considered and sometimes are missed, with fatal consequences. In most cases of IEM, infants are healthy and asymptomatic at birth. Onset of symptoms ranges from a few hours after birth to several weeks of age, depending on the underlying...
