RT Book, Section A1 Gomella, Tricia Lacy A1 Cunningham, M. Douglas A1 Eyal, Fabien G. A1 Tuttle, Deborah J. SR Print(0) ID 1107524238 T1 Inborn Errors of Metabolism with Acute Neonatal Onset T2 Neonatology: Management, Procedures, On-Call Problems, Diseases, and Drugs, 7e YR 2013 FD 2013 PB McGraw-Hill Education PP New York, NY SN 9780071768016 LK accesspediatrics.mhmedical.com/content.aspx?aid=1107524238 RD 2024/10/15 AB Inborn errors of metabolism (IEMs) are a group of disorders that are of great importance to physicians treating newborns. The immediate diagnosis and appropriate treatment of these conditions are often directly linked to the patient's outcome to the extremes of avoiding death or irreversible brain damage. Pediatricians may feel overwhelmed by the number and complexity of these disorders (Table 101–1) and the interpretation of laboratory tests needed to establish the diagnosis. This chapter, therefore, concentrates on the symptom patterns, laboratory tests and their interpretation, as well as the initial stabilization of the patient rather than discussing details of the specific biochemical and genetic defects or special treatment measures of IEMs. Usually, the patient's ongoing treatment is supervised by a geneticist specially trained in biochemical genetics.