CPT2 Deficiency: Effects on Menstrual Cycles and Weight Loss

Carnitine palmitoyltransferase II (CPT 2) deficiency is the most common of the fatty acid oxidation disorders (FAODs). This disorder can cause a variety of problems. This article will discuss the effects that CPT2 Deficiency can have on menstrual cycles and body weight.

What Is CPT2 Deficiency?

CPT2 deficiency is a genetic disorder that inhibits fatty acids from entering the mitochondria. The mitochondria would typically utilize these fatty acids as an energy source when the body runs out of natural sugars. Carnitine is necessary for this process. It links to the fatty acids, turning them into fatty acylcarnitine. Carnitine then allows the fatty acid to cross the membrane into the inner part of mitochondria. Once the carnitine and fatty acid complex enter the inner mitochondria, CPT2 returns the fatty acylcarnitine to its original complex that is used by the mitochondria to generate energy. With CPT2 deficiency, individuals cannot return the fatty acids to this usable complex for energy generation in the mitochondria. Without energy generation from fatty acids, most cells in the body will not have enough energy to keep going normally anytime the body is stressed

CPT2 Deficiency and Menstrual Cycles

With the growth of our CPT2 deficiency studies, we have noticed that affected women have a variety of problematic symptoms associated with menstrual cycles. For example, some women with a CPT2 deficiency reported increased muscle cramping just before their periods began, while others have reported rhabdomyolysis at the same stage or in the early phase of their period.

While the specific treatment for these symptoms varies by patient and should always be discussed with a physician, in our experience, we have found that long-acting progesterone can help alleviate the associated discomfort. If you feel any of these symptoms, we strongly suggest contacting your metabolic physician to discuss approaches to reduce the pain.

CPT2 Deficiency and Weight Loss

Because CPT2 deficiency prevents the body from breaking down fat to obtain energy, unused fat in the body will accumulate and can cause weight gain. Once an individual with CPT2 accumulates fat in their body, it will be difficult to lose weight. In our research to search for solutions to this problem, we have found that slightly decreasing one’s caloric intake, paired with adequate intake of lean protein and routine exercise, has yielded the best weight loss results. In another promising study from our group we found that after four months on a high protein diet, including whey protein, individuals with CPT2 deficiencies produced new lean muscle mass. Increased lean muscle mass increases the body’s energy needs, and we are hopeful that higher levels of lean muscle increase the likelihood of weight loss.

We once again would like to reiterate that changes in diet or exercise should be discussed with your current metabolic physician to ensure that weight loss is slow, steady, and healthy. Dr. Melanie Gillingham at INFORM Networks, through her research, recommends a diet that includes a decrease of ”500 kcal per day combined with routine exercise to maintain muscle mass,” adding that one should “consume a small amount of MCT and adequate protein throughout the day.” These calorie reductions can change depending on the current body mass index of the individual, so be sure to contact your physician to determine what is best for you.

Further FAOD Research

At INFORM Networks, we provide valuable research and insights into FAODs. Our research includes studies into disorders including but not limited to  CPT2 deficiency, CACT Deficiency, CPT1a Deficiency, and MCAD Deficiency. Visit our site for more information on symptoms, treatments, and general findings on FAODs.

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