Systemic carnitine deficiency

Systemic Carnitine Deficiency (SCD), also known as Carnitine Deficiency Syndrome or Primary Carnitine Deficiency, is a rare metabolic disorder that affects the body's ability to transport carnitine across cell membranes. Carnitine, a naturally occurring amino acid derivative, is essential for the transport of long-chain fatty acids into the mitochondria for beta-oxidation and energy production. This condition can lead to various symptoms and complications, primarily affecting the muscles, heart, and liver.

Causes

Systemic Carnitine Deficiency is primarily caused by genetic mutations in the SLC22A5 gene, which encodes the organic cation transporter novel type 2 (OCTN2). OCTN2 is responsible for the active transport of carnitine into cells. Mutations in this gene lead to inadequate cellular uptake of carnitine, resulting in low carnitine levels in the body's tissues and plasma. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms

The symptoms of Systemic Carnitine Deficiency can vary widely among individuals but typically include:

• Muscle weakness and fatigue
• Hypoglycemia (low blood sugar levels)
• Cardiomyopathy (disease of the heart muscle)
• Hepatomegaly (enlarged liver)
• Hyperammonemia (elevated ammonia levels in the blood)

Symptoms can range from mild to severe and may appear anytime from infancy to adulthood, although the condition is most commonly diagnosed in childhood.

Diagnosis

Diagnosis of Systemic Carnitine Deficiency involves a combination of clinical evaluation, family history, and laboratory tests. Key diagnostic tests include:

• Blood tests to measure plasma carnitine levels
• Genetic testing to identify mutations in the SLC22A5 gene
• Muscle biopsy to assess carnitine levels in muscle tissue

Treatment

Treatment for Systemic Carnitine Deficiency focuses on managing symptoms and preventing metabolic crises. The primary treatment is oral L-carnitine supplementation, which can significantly improve symptoms, especially muscle weakness and cardiomyopathy. Patients may also require dietary modifications, such as a low-fat, high-carbohydrate diet, and frequent meals to prevent hypoglycemia.

Prognosis

With early diagnosis and appropriate treatment, individuals with Systemic Carnitine Deficiency can lead relatively normal lives. However, the prognosis can vary depending on the severity of symptoms and the age at diagnosis. Untreated, the condition can lead to serious complications, including heart failure, liver dysfunction, and sudden death.

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