Carnitine Palmitoyl Transferase-1 Deficiency with Hepatic Encephalopathy in an Adolescent

摘要

Carnitine palmitoyl transferase 1 (CPT 1) deficiency is a rare metabolic disorder and it more often manifests in infants. Adolescent age presentation and recovery from severe hepatic encephalopathy is extremely rare. A 14 year old adolescent boy presented with hepatic encephalopathy. Metabolic screening revealed carnitine palmitoyl transferase 1 deficiency. When a child presents with encephalopathy with liver involvement during illness or fasting, fatty acid oxidation defect should be considered and appropriate work up process should be initiated. With CPT1 deficiency as the diagnosis, the patient should be given instructions to follow emergency treatment regime and to adhere to high carbohydrate and low fat diet.