Lysosomal acid lipase deficiency
Other Names for this Disease
- LAL deficiency
- LIPA deficiency
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 When there is a deficiency of this enzyme, the body cannot break down certain fats, resulting in the toxic buildup of 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 cholesteryl 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 under active investigation.Lysosomal acid lipase deficiency is a lipid storage disease caused by reduced or missing lysosomal acid lipase.
Last updated: 7/14/2015
- NINDS Acid Lipase Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). April 16, 2014; http://www.ninds.nih.gov/disorders/acid_lipase/acid_lipase.htm. Accessed 7/14/2015.
- Lysosomal acid lipase deficiency. Orphanet. April 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275761. Accessed 7/14/2015.
- Lysosomal Acid Lipase Deficiency. Online Mendelian Inheritance in Man (OMIM). December 17, 2013; http://www.omim.org/entry/278000. Accessed 7/14/2015.
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