Carnitine Deficiency

Carnitine Deficiency: An In-Depth Guide

What is Carnitine Deficiency?

Carnitine deficiency is a rare genetic disorder that affects the body's ability to produce or transport carnitine. Carnitine is an amino acid that is essential for the metabolism of fatty acids. Without carnitine, the body cannot convert fatty acids into energy, which can lead to a number of health problems, including heart disease, liver disease, and muscle weakness.

What are the Symptoms of Carnitine Deficiency?

The symptoms of carnitine deficiency can vary depending on the severity of the deficiency. In mild cases, there may be no symptoms. In more severe cases, symptoms can include:

• Fatigue
• Muscle weakness
• Heart problems
• Liver problems
• Delayed growth
• Intellectual disability

What Causes Carnitine Deficiency?

Carnitine deficiency is caused by a defect in one of the genes that is responsible for producing or transporting carnitine. These defects can be inherited or acquired. Inherited defects are passed down from parents to children. Acquired defects can be caused by a number of factors, including:

• Certain medications
• Kidney disease
• Liver disease
• Thyroid disease
• Cancer

How is Carnitine Deficiency Diagnosed?

Carnitine deficiency is diagnosed with a blood test that measures the level of carnitine in the blood. A muscle biopsy may also be performed to confirm the diagnosis. The muscle biopsy can also show how severe the deficiency is.

How is Carnitine Deficiency Treated?

The treatment for carnitine deficiency is to take carnitine supplements. The dose of carnitine will vary depending on the severity of the deficiency. In some cases, other medications may also be needed to treat the underlying cause of the carnitine deficiency. In severe cases, a heart transplant may be necessary.

What is the Prognosis for Carnitine Deficiency?

The prognosis for carnitine deficiency depends on the severity of the deficiency. With early diagnosis and treatment, most people with carnitine deficiency can live a normal life. However, people with severe carnitine deficiency may have a shortened life expectancy.