Wolman disease
Definition
Wolman disease is a rare inherited defect in the body's metabolism of fats (lipids).
Description
Wolman disease, also known as lysosomal acid lipase disease, is a lethal genetic disorder caused by the lack of the enzyme lysosomal acid lipase. Lysosomal acid lipase is a cellular enzyme widespread throughout the body. It is important in the breakdown of certain body lipids called triglycerides and cholesteryl esters. Individuals without active enzyme accumulate abnormally large amounts of these lipids in their cells. This build-up interferes with the normal metabolic functions of the cells and leads to severe neurological and physical symptoms and early death. A milder disease, cholesteryl ester storage disease (CESD), is caused by mutations in the same
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