Carnitine Deficiency : Symptoms, Causes, & Treatment

Carnitine Deficiency – Symptoms, Causes, & Treatment

Carnitine Deficiency

The body naturally produces energy from fats by using an organic compound called carnitine. Less than 10% of the vitamin carnitine is accessible to the body’s cells when there is a carnitine shortage. This may result in liver or cardiac issues as well as muscular weakness. Part of your diet contains items that contain carnitine.

It is crucial for the absorption of fatty acids by cells for energy production. Particularly crucial for some types of cells, including muscle cells, is carnitine. Cells that depend on fatty acids for energy may begin to function badly if there is a carnitine shortage. Furthermore, all ages and ethnic origins of children and adults might have this type of insufficiency.


The symptoms of the main disease are more severe than those of the subsequent ailment. Early in childhood, signs of primary carnitine insufficiency often appear in children. However, symptoms can sometimes appear in adults.

Each person may experience symptoms slightly differently. Your symptoms might be minor or severe, or you could not have any at all. Certain symptoms could emerge from sickness, excessive activity, or meal skipping. Among the symptoms are:

  • Weakness or lower tone in the muscles
  • Exhaustion (fatigue)
  • Intolerance
  • Slow development of movement (motor)
  • Also, a baby’s poor feeding
  • Signs of low blood sugar in the event of a liver ailment
  • Breathlessness or swelling, if the heart is impacted

The symptoms might resemble those of other medical disorders.

Causes of Carnitine Deficiency

An abnormal gene is the root cause of this crucial disease. The secondary condition may arise due to a variety of medical disorders. These lower the body’s level of carnitine. They could do this by excreting more pee. Alternatively, they might make the body absorb meals less. The following medical conditions may be the cause of this:

  • Illness of the liver
  • Kidney illness, particularly after receiving dialysis
  • Also, illness of the digestive system that impairs absorption
  • Undernourishment
  • Mitochondrial disease
  • Certain metabolic disorders
  • Also, certain medicines


A geneticist or neurologist may diagnose the illness. A newborn may get a diagnosis as part of routine newborn screening procedures. A health history and physical examination are the first steps in the diagnosis.

Your doctor will inquire about your symptoms and previous medical history. They could also inquire about the medical history of your family. A neurological exam could be part of the physical examination. One may also conduct tests. Among them are:

Blood tests

These measure the blood’s carnitine levels. In addition, they look for creatine kinase. This demonstrates muscular damage. Additionally, they look for blood enzymes that may indicate liver illness.

Urine test

This test seeks a kind of protein known as ketones.

Exercise tests

These aid in determining the kind of metabolic issue.

Genetic test

This type of test can verify a fundamental deficit in carnitine.

Heart tests

Echocardiography is one test that can determine whether the heart is impacted.


Taking tablets containing L-carnitine is the major therapy for this illness. Carnitine is available in this utilizable form. It comes as a pill. The blood and internal components of cells have more carnitine when L-carnitine is present.

This can aid in the prevention of several illness symptoms. You are likely to have to take L-carnitine for the rest of your life if you have the primary ailment. However, you might only need to take this for a short period of time if you have a secondary ailment.

To monitor your carnitine levels, you might require further blood tests. You might require further care if you have liver or cardiac issues. Additionally, it’s critical to avoid anything that might worsen symptoms. These include overindulging in activity, missing meals, and exposing oneself to the cold.

The Bottom Line

A disease known as carnitine insufficiency occurs when the vitamin is unable to enter your body’s cells. It could result in weakened muscles. It could also result in liver and cardiac issues. This can cause major problems for the heart and liver if left unchecked. Furthermore, avoiding things like skipping meals or doing a lot of activity could be necessary if they cause symptoms.