Se Asian J Trop Med
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Se Asian J Trop Med · Jan 2003
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. ⋯ In many instances, presymptomatic treatment of affected relatives, carrier testing, and prenatal diagnosis can be offered. The types of inborn errors and their mode of presentation in the newborn are discussed, along with a schema permitting their rapid diagnosis. The principles of emergency and long term management are also discussed, with particular emphasis on those disorders that present in the newborn period with an acute encephalopathy, the so-called "small molecule" disorders.