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Lysosomal acid lipase deficiency (or LAL deficiency) happens when the body does not produce enough (or none) lysosomal acid lipase (LAL or LIPA) enzyme. This enzyme plays an important role in breaking down fatty material (cholesteryl esters and triglycerides) in the body. Infants, children and adults that suffer from LAL Deficiency experience a range of serious health problems. The lack of the LAL enzyme can lead to a build-up of toxic fatty substances in the body's cells and tissues.

Two rare conditions may result from this deficiency (likely representing two ends of a clinical spectrum): Wolman disease and cholesterol ester storage disease. These conditions are caused by mutations in the LIPA gene and are inherited in an autosomal recessive manner. Enzyme replacement therapy for both Wolman disease and cholesteryl ester storage disease is currently approved for use.

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