Investigation of metabolic encephalopathy

Encephalopathy may be a presenting sign in a wide range of medical conditions. This review focuses only on the diagnosis and initial management of those inherited metabolic diseases (IMDs) prevalent in South Africa that may present with encephalopathy in childhood. Metabolic encephalopathy is a medical emergency, and appropriate empirical intervention can often improve outcome, provided a timely working diagnosis is made based on clinical suspicion and targeted laboratory investigations. CME January 2013 Vol. 31 No. 1