TY - CHAP M1 - Book, Section TI - Inborn Errors of Metabolism with Acute Neonatal Onset A1 - Gomella, Tricia Lacy A1 - Cunningham, M. Douglas A1 - Eyal, Fabien G. A1 - Tuttle, Deborah J. PY - 2013 T2 - Neonatology: Management, Procedures, On-Call Problems, Diseases, and Drugs, 7e 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/10 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1107524238 ER -