Primary carnitine deficiency
Primary Carnitine Deficiency
Primary Carnitine Deficiency (pronounced: kahr-NEE-teen de-fish-en-see) is a genetic disorder that prevents the body from using certain fats for energy, particularly during periods without food.
Etymology
The term "Carnitine" is derived from the Latin carnus, meaning "flesh", as it was first isolated from meat extract. The term "Deficiency" comes from the Latin deficientia, meaning "a lack or shortage".
Definition
Primary Carnitine Deficiency is a condition that prevents the body from converting fats into energy, typically during periods of fasting. The condition is caused by a defect in the SLC22A5 gene, which is responsible for the production of a protein that helps bring carnitine into cells.
Symptoms
Symptoms of Primary Carnitine Deficiency can vary widely among individuals. They may include hypoglycemia, muscle weakness, fatigue, cardiomyopathy, and in severe cases, heart failure. Symptoms typically appear during infancy or early childhood.
Diagnosis
Diagnosis of Primary Carnitine Deficiency typically involves a blood test to measure the amount of carnitine in the body. Genetic testing may also be performed to identify mutations in the SLC22A5 gene.
Treatment
Treatment for Primary Carnitine Deficiency typically involves taking oral carnitine supplements to replace the carnitine that the body cannot produce. This treatment usually continues throughout the individual's life.
Related Terms
- Carnitine: A substance that the body makes from amino acids and uses to turn fat into energy.
- SLC22A5: The gene that provides instructions for making a protein that transports carnitine into cells.
- Hypoglycemia: A condition characterized by an abnormally low level of glucose (sugar) in the blood.
- Cardiomyopathy: A disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body.
- Heart failure: A condition in which the heart can't pump enough blood to meet the body's needs.
External links
- Medical encyclopedia article on Primary carnitine deficiency
- Wikipedia's article - Primary carnitine deficiency
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