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Wolman Disease

Abstract

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NORD is very grateful to Jakub Tolar, MD, PhD, Division of Pediatric Hematology-Oncology, Department of Pediatrics, Blood and Marrow Transplantation, University of Minnesota, for the assistance in the preparation of this report.

Synonyms of Wolman Disease

  • Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
  • Lysosomal Acid Lipase Deficiency, Wolman Type

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Wolman disease is 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 of the lysosomal acid lipase (LIPA) gene. The disorder is inherited as an autosomal recessive trait.

Wolman disease is the most severe expression of LIPA deficiency. Milder forms of the disorder are known as cholesteryl ester storage deficiency (see the Related Disorders section of this report). Wolman disease belongs to a group of diseases known as lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. Defective lysosomal enzymes associated with Wolman disease leads to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body.

Wolman Disease Resources

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