Hereditary carnitine deficiency syndrome

Hereditary Carnitine Deficiency Syndrome is a genetic disorder that affects the body's ability to metabolize fats into energy. This condition is characterized by low levels of carnitine, a substance essential for the transport of fatty acids into the mitochondria, where they are converted into energy. It is a rare metabolic disorder that can present in various forms, from mild to life-threatening. The syndrome 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.

Symptoms and Diagnosis

Symptoms of Hereditary Carnitine Deficiency Syndrome can vary widely among individuals but often include muscle weakness, fatigue, hypoglycemia (low blood sugar), heart problems, and liver dysfunction. In severe cases, it can lead to metabolic crises triggered by periods of fasting or illness.

Diagnosis is typically made through blood tests that measure the levels of carnitine in the plasma. Genetic testing can confirm the diagnosis by identifying mutations in the genes responsible for carnitine uptake and metabolism.

Treatment

Treatment for Hereditary Carnitine Deficiency Syndrome focuses on managing symptoms and preventing metabolic crises. This often involves dietary modifications to limit the intake of long-chain fats and supplementation with oral L-carnitine to increase carnitine levels in the body. Regular monitoring by a healthcare provider specializing in metabolic disorders is crucial to adjust treatment as needed and to monitor for potential complications.

Genetics

The condition is caused by mutations in genes related to the transport and metabolism of carnitine. The most common form of the disorder, primary carnitine deficiency, is caused by mutations in the SLC22A5 gene, which encodes the organic cation transporter novel 2 (OCTN2). OCTN2 is essential for the reabsorption of carnitine in the kidneys and its uptake into cells.

Epidemiology

Hereditary Carnitine Deficiency Syndrome is considered a rare disorder, though its exact prevalence is unknown. The primary form of the disorder, due to mutations in the SLC22A5 gene, has been reported in various ethnic groups worldwide.

See Also

• Metabolic disorder
• Genetic disorder
• Mitochondrial disease
• Fatty acid metabolism