Definition of Carnitine Palmitoyltransferase 2 (CPT2) Deficiency

Carnitine palmitoyltransferase 2 (CPT2) deficiency: This rare genetic condition prevents the body from using certain fats for energy. Mutations in a gene known as CPT2 cause this condition. People inherit the condition in an autosomal recessive pattern, meaning an affected person must have received a defective copy of the gene from both parents. There are three main types of the condition: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The infantile and neonatal types are severe diseases characterized by liver failure, heart problems, seizures, and early death. Symptoms of the third (myopathic) form include exercise-induced muscle pain and weakness.