acid lipase deficiency


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Related to acid lipase deficiency: Lipoprotein lipase deficiency

acid lipase deficiency

One of two autosomal recessive illnesses in which the body lacks an enzyme for metabolizing fats, causing cholesterol, oils, or waxes to accumulate in abnormal amounts in the body. The acid lipase diseases are Wolman disease and cholesterol ester storage disease. Synonym: acid lipase disease
Acid lipase disease.
See also: deficiency
References in periodicals archive ?
(5.) Burton BK, Balwani M, Feillet F, et al A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency N Engl J Med 2015, 373 1010-20.
Sebelipase (Kanuma) is a lysosomal cholesteryl ester and triacylglycerol-specific enzyme that is indicated for the treatment of lysosomal acid lipase deficiency. The animal data suggest low risk.
Patients with Wolman disease have lysosomal acid lipase deficiency (LAL-D), which results in a fat buildup within the cells of various tissues.