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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 approved for use.[1]
Last updated: 4/2/2016

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.
  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.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.