Diagnosing Inborn Errors of Metabolism in the Newborn: Clinical Features
نویسنده
چکیده
1. Delineate features of a medical history that should raise suspicion for an inborn error of metabolism. 2. Describe common ocular findings associated with inborn errors of metabolism. 3. List the primary clinical findings of inborn errors of metabolism associated with encephalopathy without metabolic acidosis. 4. Delineate the categories of inborn errors of metabolism associated with encephalopathy and metabolic acidosis.
منابع مشابه
Clinical evaluation and emergency management of inborn errors of metabolism presenting in the newborn.
Close to 500 biochemically diverse genetic metabolic disorders have been identified. Despite their diversity, these diseases share a number of features. First, the majority of patients with an inborn error present clinically with one of five general phenotypes; acute encephalopathy, progressive encephalopathy, primary muscle disease, primary liver disease or primary renal disease. Encephalopath...
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