Inborn errors of metabolism (IEMs) are thought to present in infancy with acute
decompensation including feeding intolerance and vomiting, lethargy, and coma. Most
practitioners assume that children will be diagnosed in their first months of life. However,
certain IEMs present more insidiously, and occasionally children fail to receive newborn
screening resulting in delayed diagnoses, as metabolic and genetic disorders are
overlooked causes of cognitive and neurologic deficits. Although signs and symptoms may …