TY - CHAP M1 - Book, Section TI - Inborn Errors of Metabolism A1 - Hoganson, George E. A2 - Tenenbein, Milton A2 - Macias, Charles G. A2 - Sharieff, Ghazala Q. A2 - Yamamoto, Loren G. A2 - Schafermeyer, Robert PY - 2019 T2 - Strange and Schafermeyer's Pediatric Emergency Medicine, 5e AB - Inborn errors of metabolism (IEM) that are more likely to present in the emergency department (ED) can be classified into a number of categories:Select amino acid disordersUrea cycle defectsDisorder of carbohydrate metabolismOrganic acid disordersFatty acid oxidation defectsAge of presentation is often related to the specific IEM and can vary from the newborn period to later in life, even into adulthood.With expanded newborn screening for IEM, more patients with one of these disorders will present to the ED with a known diagnosis.Patients with IEM can present with no prior history of medical problems. Precipitating events include febrile illness, gastroenteritis, poor oral intake, dietary change (increased protein intake, addition of fructose to the diet), or exercise.Clinical symptoms of IEM include vomiting, altered mental status/lethargy, seizures, hypotonia, and tachypnea.Hypoglycemia, anion gap acidosis, hyperammonemia, and ketosis are some of the metabolic consequences of IEM.General laboratory testing to consider in a patient with a suspected IEM includes glucose, ammonia, liver function, creatine kinase (CK), electrolytes, blood gas, uric acid, urinalysis, and urine-reducing substance. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/08 UR - accessemergencymedicine.mhmedical.com/content.aspx?aid=1155427872 ER -