Lecithin cholesterol acyltransferase deficiency

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Lecithin Cholesterol Acyltransferase Deficiency

Lecithin cholesterol acyltransferase deficiency (pronounced: leh-si-thin koh-les-ter-ol as-il-trans-fer-ase de-fi-shen-see), also known as LCAT deficiency, is a rare genetic disorder characterized by the lack of a functional LCAT enzyme. This enzyme is crucial for the normal metabolism of lipoproteins in the body.

Etymology

The term "Lecithin cholesterol acyltransferase deficiency" is derived from the name of the enzyme that is deficient in this condition. "Lecithin" is a type of phospholipid, "cholesterol" is a type of lipid, and "acyltransferase" refers to the class of enzymes that transfer acyl groups from one molecule to another.

Symptoms

The symptoms of LCAT deficiency can vary widely among affected individuals. Common symptoms include corneal opacities, anemia, and kidney disease. Some individuals may also develop atherosclerosis at an early age.

Diagnosis

Diagnosis of LCAT deficiency is based on the clinical symptoms, laboratory tests showing abnormal lipid levels, and genetic testing confirming a mutation in the LCAT gene.

Treatment

There is currently no cure for LCAT deficiency. Treatment is focused on managing the symptoms and preventing complications. This may include dietary modifications, medications to control lipid levels, and in severe cases, kidney transplantation.

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