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Primary Carnitine Deficiency

What is primary carnitine deficiency?

Primary carnitine deficiency is an inherited genetic disorder that prevents an individual’s body from utilizing certain fat for energy. Carnitine is a substance most individuals get from food and is necessary for the ability of the body’s cells to turn fat into energy. This disorder can lead to a build-up of fat in the liver, heart and muscles. Symptoms of primary carnitine deficiency are usually apparent during infancy, and primary carnitine deficiency is especially noticeable during episodes of fasting.

The estimated occurrence of primary carnitine deficiency is 1 in every 100,000 births.

What are the symptoms of primary carnitine deficiency?

The symptoms of primary carnitine deficiency vary in frequency and severity. Symptoms appear more severely and frequently during times of illness and during times of lack of food intake. Symptoms seen in infants include:

  • Poor feeding
  • Low blood sugar
  • Irritability
  • Liver abnormalities

Early childhood symptoms include:

  • Brain dysfunction
  • Heart disease, including enlarged heart
  • Muscle weakness
  • Liver dysfunction
  • Confusion
  • Vomiting
  • Low blood sugar

In adults the most common symptoms are fatigue and activity intolerance.

What causes primary carnitine deficiency?

Primary carnitine deficiency is a recessive inherited trait.  This means that this disorder must be inherited from both the mother and the father. A person with the trait but not the disorder is known as a carrier.

Are there treatment options available for primary carnitine deficiency?

The main treatment for primary carnitine deficiency is lifelong use of L-carnitine.  This is a natural substance that one takes to help the body’s cells make energy and eliminate harmful waste. Dietary adjustments are also used for symptom control. These dietary measures include:

  • Frequent feeding of infants
  • Low fat, high-carbohydrate diet
  • Increased intake of starchy food and drinks during the times of illness

Where can I find more information about primary carnitine deficiency?

Primary Carnitine Deficiency Articles