Carnitine palmitoyltransferase II deficiency is a metabolic disorder that prevents the body from breaking down certain fats to use them for energy.
This causes a buildup of fatty acids that may damage the heart, lungs, or muscles. There are three different forms of the condition, with the myopathic form being the least severe. Symptoms typically present anywhere from shortly after birth through the first year of life. Symptoms may include respiratory failure, seizures, liver failure, an irregular heartbeat, as well as low blood sugar, seizures, an enlarged liver, cardiomyopathy, and arrhythmias.
Carnitine palmitoyltransferase II deficiency is caused by pathogenic (disease-causing) variants in the CPT2 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 45 chance to be a carrier. Carriers typically do not experience any symptoms.
Resources:
Jewish Genetic Disease Consortium
Genetic and Rare Diseases Information Center (GARD)
Revised July 2022
