Topics Discussed: genetics and dysmorphology; inborn errors of metabolism.
Sections: Inborn Errors of Metabolism: Introduction, Presentation, Diagnostic Testing, Newborn Screening, Treatment, References.
- 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 disorders
- urea cycle defects
- disorder of carbohydrate metabolism
- organic acid disorders
- fatty acid oxidation defects
- Age 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. In these cases, information on associated clinical metabolic problems, indicated laboratory testing, and treatment for the condition is available.
- Patients with IEM can present with no prior history of medical problems. Precipitating events include febrile illness, gastroenteritis, poor oral intake, dietary change (EG, increased protein intake, or 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. Presence of these problems should lead to the inclusion of IEM in the patient's differential diagnosis.
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