What Your Test Results Mean:

Carriers typically show no symptoms of CPT2 deficiency; however, carriers are at an increased risk of having a child with CPT2 deficiency. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.

Disease Explained:

CPT2 deficiency is an inherited metabolic disorder that prevents the body from converting certain types of fats into energy. There are three forms of the disease: the lethal neonatal form, the severe infantile hepatocardiomuscular form, and the myopathic form. Symptoms range from liver failure and sudden death in the most severe form to episodes of muscle pain and damage triggered by exercise, stress, extreme temperature, infections, or fasting in the myopathic form. A high-carbohydrate, low-fat diet is recommended and fasting should be avoided. Diet and medications are typically managed by a metabolic physician and dietician.

How the Genetics Works:

CPT2 deficiency is an autosomal recessive disorder caused by pathogenic variants in the CPT2 gene. In general, individuals have two copies of the CPT2 gene. Carriers of CPT2 deficiency have a single variant in one copy of the CPT2 gene while individuals with CPT2 deficiency have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.