What Your Test Results Mean:

Carriers typically show no symptoms of CPT1A deficiency; however, carriers are at an increased risk of having a child with CPT1A 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:

CPT1A deficiency is an inherited metabolic disorder that prevents the body from converting certain types of fats into energy. Individuals with CPT1A are developmentally and cognitively normal but during periods of metabolic crisis may show symptoms including vomiting, low blood sugar, lack of energy, and failure to thrive that may result in organ damage without proper management. 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. A pregnant woman whose fetus has CPT1A deficiency is at risk for pregnancy complications such as a fatty liver.

How the Genetics Works:

CPT1A deficiency is an autosomal recessive disorder caused by pathogenic variants in the CPT1A gene. In general, individuals have two copies of the CPT1A gene. Carriers of CPT1A deficiency have a single variant in one copy of the CPT1A gene while individuals with CPT1A 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%.