Carnitine uptake deficiency

Carnitine Uptake Deficiency Carnitine uptake deficiency, also known as primary carnitine deficiency, is a rare metabolic disorder that affects the body's ability to transport carnitine into cells. This condition can lead to a variety of symptoms and health issues due to the role of carnitine in energy production.

Overview

Carnitine is a nutrient that is essential for the transport of long-chain fatty acids into the mitochondria, where they are oxidized to produce energy. In individuals with carnitine uptake deficiency, there is a defect in the transporter protein responsible for moving carnitine into cells, leading to low levels of carnitine in tissues.

Symptoms

The symptoms of carnitine uptake deficiency can vary widely among affected individuals. Common symptoms include:

• Muscle weakness
• Hypoglycemia (low blood sugar)
• Cardiomyopathy (heart muscle disease)
• Fatigue
• Failure to thrive in infants

Diagnosis

Diagnosis of carnitine uptake deficiency typically involves:

• Blood tests to measure carnitine levels
• Genetic testing to identify mutations in the SLC22A5 gene, which encodes the carnitine transporter
• Newborn screening programs in some regions may also detect this condition early.

Treatment

Treatment for carnitine uptake deficiency usually involves:

• Oral carnitine supplementation to increase carnitine levels in the body
• Dietary management to avoid fasting and ensure adequate caloric intake
• Regular monitoring of heart function and muscle strength

Genetics

Carnitine uptake deficiency is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. Carriers, who have only one copy of the mutation, typically do not show symptoms.

Prognosis

With early diagnosis and appropriate treatment, individuals with carnitine uptake deficiency can lead relatively normal lives. However, untreated, the condition can lead to serious complications, including heart failure and sudden death.

Research

Ongoing research is focused on better understanding the genetic basis of carnitine uptake deficiency and developing more effective treatments. Studies are also exploring the role of carnitine in other metabolic disorders.

See Also

• Fatty acid oxidation disorders
• Metabolic myopathies
• Genetic disorders

External Links

• National Organization for Rare Disorders
• Genetics Home Reference

NIH genetic and rare disease info

• NIH info on Carnitine uptake deficiency

Carnitine uptake deficiency is a rare disease.