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Diseases

Genetic and Rare Diseases Information Center (GARD)

Lysosomal acid lipase deficiency


Other Names for this Disease
  • LAL deficiency
  • LIPA deficiency
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Overview

Lysosomal acid lipase deficiency is a lipid storage disease caused by reduced or missing lysosomal acid lipase.[1][2] 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.[1] Two rare conditions may result from this deficiency (likely representing two ends of a clinical spectrum): Wolman disease and cholesteryl ester storage disease.[1][3] These conditions are caused by mutations in the LIPA gene and are inherited in an autosomal recessive manner.[2][3] Enzyme replacement therapy for both Wolman disease and cholesteryl  ester storage disease is currently under active investigation.[1]
Last updated: 7/14/2015

References

  1. 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.
  2. 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.
  3. 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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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lysosomal acid lipase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • LAL deficiency
  • LIPA deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.