Wolman Disease

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Wolman Disease is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Summary
Wolman disease is a type of lysosomal acid lipase (LAL) deficiency; a rare genetic disorder characterized by complete absence of an enzyme known as lysosomal acid lipase (LIPA or LAL). This enzyme is required to breakdown (metabolize) certain fats (lipids) in the body. Without the LIPA enzyme, certain fats may abnormally accumulate in the tissues and organs of the body causing a variety of symptoms. Wolman disease may cause bloating or swelling of the stomach (abdominal distention), vomiting, and significant enlargement of the liver or spleen (hepatosplenomegaly). Life-threatening complications often develop during early childhood. Wolman disease is caused by mutations in the lysosomal acid lipase (LIPA) gene and is inherited as an autosomal recessive trait.

Introduction
Wolman disease is the most severe expression of LAL deficiency; a milder form of LAL deficiency is known as cholesteryl ester storage disease (CESD). (see the Related Disorders section of this report).LIPA gene mutations that cause CESD result in some enzyme activity, whereas LIPA gene mutations that cause Wolman disease produce an enzyme with no residual activity or no enzyme at all. Genetic and biochemical evidence indicates that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

Supporting Organizations

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

Children's Liver Disease Foundation

36 Great Charles Street
Birmingham, B3 3JY
United Kingdom
Tel: 1212123839
Fax: 1212124300
Email: info@childliverdisease.org
Website: http://www.childliverdisease.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Hide & Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Tel: (877)621-1122
Fax: (866)215-8850
Email: info@hideandseek.org
Website: http://www.hideandseek.org

LAL Solace, Inc.

191 Barnstable Court
Harvest, AL 35749
Tel: (256)425-2638
Email: lalsolace@gmail.com
Website: http://www.lalsolace.org

Lysosomal Diseases New Zealand

167 Hollister Lane
Ohauiti
Tauranga, 6008
New Zealand
Tel: 75448868
Email: jenny.noble@xtra.co.nz
Website: http://www.ldnz.org.nz

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

National Tay-Sachs and Allied Diseases Association, Inc.

2001 Beacon Street
204
Brookline, MA 02146-4227
USA
Tel: (617)277-4463
Fax: (617)277-0134
Tel: (800)906-8723
Email: info@ntsad.org
Website: http://www.NTSAD.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

Vaincre Les Maladies Lysosomales

2 Ter Avenue
Massy, 91300
France
Tel: 169754030
Fax: 160111583
Email: accueil@vml-asso.org
Website: http://www.vml-asso.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  8/15/2016
Copyright  2015 National Organization for Rare Disorders, Inc.