Carnitine Total and Free Blood Test

What is the purpose of this test?

Order this Carnitine Total and Free Blood Test, which measures total and free carnitine levels in the blood. Carnitine is essential for transporting fatty acids to the mitochondria, where they are used as a source of energy. When healthcare providers suspect an individual has a metabolic disorder, unexplained muscle weakness, or symptoms of carnitine deficiency, they may recommend a carnitine test. This test is particularly relevant when assessing infants with developmental delays, poor growth, and muscle weakness.

This test may be used to help diagnose and monitor various conditions, including:

• Primary Carnitine Deficiency: An inherited disorder, that reduces carnitine levels, and can cause muscle weakness, heart problems, and metabolic disturbances.
• Secondary Carnitine Deficiency: Certain medications or kidney disease can reduce carnitine levels and cause related symptoms.
• Muscle Disorders: Carnitine deficiency can lead to various muscle-related issues, including weakness and fatigue. It can also contribute to the development of muscle disorders.

What do abnormal carnitine levels indicate?

Low levels of carnitine in the body may indicate a deficiency, which can be caused by a genetic disorder affecting carnitine uptake or by certain medications or underlying conditions. Such a deficiency can hinder the body's ability to produce energy, resulting in various symptoms. Although having normal carnitine levels can eliminate the possibility of primary carnitine deficiency, it does not necessarily rule out all metabolic diseases. Additional testing may be required to obtain a complete understanding of metabolic function.

When should I order a Carnitine Total and Free Blood Test?

Individuals may order this test if they have experienced symptoms related to a carnitine deficiency. Deficient carnitine levels symptoms may include:

• Severe brain dysfunction
• A weakened, enlarged heart
• Confusion
• Muscle weakness
• Fatty or enlarged liver
• Fatigue
• Abdominal pain
• Low weight
• Delay in growth development
• Nausea or vomiting
• Hypoglycemia