LCAT deficiency

LCAT deficiency is a rare disorder of lipoprotein metabolism. It is characterized by the abnormal processing of cholesterol, and people with this condition may show signs such as cloudy spots in the eyes (corneal opacities). In some cases, additional problems such as kidney issues and a type of blood disorder known as hemolytic anemia have been observed. Biochemically, this condition is marked by a severe reduction in HDL cholesterol, which plays an important role in the body’s management of fats. The deficiency of the LCAT enzyme leads to these biochemical changes, contributing to the clinical features of the condition.

Common signs of LCAT deficiency include cloudy areas on the cornea of the eyes. Some people with this condition may also develop kidney failure or hemolytic anemia. Biochemical tests typically show a very low level of HDL cholesterol.

LCAT deficiency is related to the low activity of the lecithin-cholesterol acyltransferase enzyme which is important in fat metabolism. Detailed information about the genetic causes and risk factors is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.