Medical 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.

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Reviewed on 8/21/2019
References
United States. National Institutes of Health. Genetic and Rare Diseases Information Center. "Carnitine palmitoyltransferase 2 deficiency." <https://rarediseases.info.nih.gov/diseases/1121/carnitine-palmitoyltransferase-2-deficiency>.