How is CPT2 Diagnosed?

Most people never think about the adverse impacts of dieting or skipping a meal on a busy day. We assume that this is a normal function of the body that can be handled by the body. Under normal circumstances, this is true as the body can utilize stored fat for energy by a set of chemical reactions known as fatty acid oxidation. These reactions are performed by specialized proteins known as enzymes, one of which is carnitine palmitoyltransferase 2 (CPT2).

When CPT2 is deficient due to genetic mistakes, the body can no longer turn stored fat into energy. This causes a breakdown in your muscles with fasting and stress, such as illness or exercise. It can happen to children, men, and women.

Diagnosing a CPT2 deficiency requires going to a specialist. Here are some insights on what we do to diagnose this condition.

CPT2 Deficiency Symptoms

CPT2 is caused by genetic traits that make it difficult for your liver to break down fat and convert it into energy. Those who are effect by this condition will show many different symptoms including

  • Low blood sugar
  • Muscle pain, weakness, and a breakdown of the muscles
  • Weakened heart
  • Respiratory issues
  • Unusual heart rhythms
  • Kidney and liver problems
  • A mental fog

These symptoms will show when you skip meals, during exercise, or an illness.

We recommend getting help right away if you are experiencing these symptoms. Our team will work with you to find effective CPT2 treatment options. We will show you what to do to effectively manage it.

The Diagnosis

A CPT2 deficiency is diagnosed by visiting a geneticist or a neurobiologist. The process starts by looking at your medical history and conducting a physical exam. You want to talk about your family’s medical history and if anyone suffered from this condition.

The physical exam involves conducting several different tests including

  • Blood: This looks for chemicals in the blood known as acylcarnitines and an enzyme know as CPK. It tells us if there are any signs of an abnormally functioning fatty acid oxidation.
  • Urine: Your urine will tell if you are having muscle breakdown. We look for a protein called myoglobins to see if this is happening.
  • Genetic testing: We will do genetic testing for CPT2 or other fatty acid oxidation disorders.
  • Heart: CPT2 can cause your heart to become enlarged and weak. An echocardiogram lets us see how it is affected to help with the diagnosis.

These are some of the ways that we will diagnose this condition. Our team of specialists will help you to understand what a diagnosis means and how we can help you with your CPT2 treatment.

Inform Network

These are some of the ways that we will diagnose a CPT2 deficiency. This information is brought to you by Inform Network ( International Network for Fatty Acid Oxidation Research and Management ). Our team of dedicated professionals strive every day to help researchers learn more about this disease and to help you with your CPT2 deficiency management. Learn more about CPT2 deficiency.