Carnitine Deficiency Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Carnitine Deficiency Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Carnitine Deficiency, Myopathic
  • Carnitine Deficiency, Primary
  • Carnitine Deficiency, Secondary
  • Muscle Carnitine Deficiency
  • Renal Reabsorption of Carnitine, Defect

Disorder Subdivisions

  • None

General Discussion

Carnitine Deficiency Syndrome is a rare metabolic disorder that may be inherited in some cases, or occur as a result of other metabolic disorders. Carnitine functions in the body as a carrier of fatty acids to the energy centers in muscles (mitochondria). A deficiency of carnitine, normally produced by the liver and kidneys, can result in extreme muscle weakness and other related symptoms.


There may be two types of Carnitine Deficiency: Myopathic Carnitine Deficiency (affecting muscles) and Systemic Carnitine Deficiency (affecting the entire body).

Muscle weakness is the primary symptom of Myopathic Carnitine Deficiency Syndrome. Shortages and/or interrupted supplies of energy to muscles may result in the destruction of muscle tissue. Oxygen-carrying protein (myoglobulin) may also be lost and secreted in the urine (rhabdomyolyis).

Systemic Carnitine Deficiency Syndrome differs from Myopathic Carnitine Deficiency because low levels of carnitine are found in tissues other than muscles, including blood and/or urine. There may also be a deficiency of carnitine in the central nervous system, liver, and/or heart. Symptoms may include loss of brain tissue (degenerative encephalopathy), episodes of vomiting, confusion, and/or stupor that progresses to coma.

Carnitine Deficiency Syndrome may also be associated with low blood sugar (hypoglycemia). Damage to the heart muscle may result in chronic heart disease (cardiomyopathy).


The Carnitine Deficiency Syndromes may be classified as primary or secondary. When a person is thought to have no other underlying disease that could cause low levels of carnitine, then the deficiency is termed "primary." When the deficiency is caused by another underlying disorder, then it is said to be "secondary."

In some cases of this disorder, total carnitine levels may be normal but are nonetheless insufficient to meet metabolic needs because of the presence of another associated disorder.

Primary Carnitine Deficiency Syndrome is thought to be inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Secondary Carnitine Deficiency usually occurs as a symptom of metabolic disorders such as organic acidemias. In rare cases, Carnitine Deficiency may also occur when there is severe liver disease or kidney (renal tubular) malfunction.

Affected Populations

Primary Carnitine Deficiency Syndrome is a rare disorder that affects males and females in equal numbers. There are only a few hundred patients in the United States with Primary Carnitine Deficiency. People who have any of the organic acidemias, mitochondrial disorders, severe liver disease, and/or renal tubular dysfunction may be at risk of developing Secondary Carnitine Deficiency.

Standard Therapies

The orphan drug L-carnitine (Carnitor) is available in tablet and liquid form. It is manufactured by Sigma Tau Pharmaceuticals. For more information on this drug, contact:

Sigma-Tau Inc.

800 South Frederick Avenue

Suite 300

Gaithersburg, MD 20877

(800) 447-0169

(301) 948-1041

Investigational Therapies

Coenzyme Q10, a vitamin-like substance, is being studied as a possible treatment for mitochondrial disorders. More studies are needed to determine the long-term safety and effectiveness of this treatment.

Information on current clinical trials is posted on the Internet at All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010


For information about clinical trials sponsored by private sources, contact:



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