Lecithin cholesterol acyltransferase deficiency

Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a rare genetic disorder characterized by the body's inability to properly metabolize certain fats (lipids) in the blood. The condition is caused by mutations in the LCAT gene and is inherited in an autosomal recessive manner.

Symptoms

The symptoms of LCAT deficiency can vary greatly from person to person. Some affected individuals may have no symptoms (asymptomatic) while others may develop serious complications. The most common symptoms include:

• Corneal opacity
• Anemia
• Proteinuria
• Kidney disease
• Renal failure

Causes

LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin cholesterol acyltransferase, which is found in the blood and is involved in the metabolism of lipids. Mutations in the LCAT gene reduce or eliminate the activity of this enzyme, leading to the characteristic features of LCAT deficiency.

Diagnosis

The diagnosis of LCAT deficiency is based on a clinical evaluation, detailed patient history, and specialized laboratory testing. Genetic testing can confirm a diagnosis.

Treatment

There is currently no cure for LCAT deficiency. Treatment is directed toward the specific symptoms that are apparent in each individual. For example, individuals with kidney disease may require dialysis or a kidney transplant.

See also

• Lipid metabolism
• Genetic disorder
• Kidney disease

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