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Wolman disease

Wolman disease

Reviewed October 2007

What is Wolman disease?

Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), and lymph nodes. In addition to fat deposits, calcium deposits in the adrenal glands are also seen.

Infants with Wolman disease are healthy and active at birth but soon develop signs and symptoms of the disorder. These may include an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, low muscle tone, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, developmental delay, low amounts of iron in the blood (anemia), and poor absorption of nutrients from food. Children affected by this condition develop severe malnutrition and generally do not survive past early childhood.

How common is Wolman disease?

Wolman disease is estimated to occur in 1 in 350,000 newborns.

What genes are related to Wolman disease?

Mutations in the LIPA gene cause Wolman disease.

The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they can be used by the body.

Mutations in this gene lead to a shortage of lysosomal acid lipase and the accumulation of triglycerides, cholesteryl esters, and other kinds of fats within the cells and tissues of affected individuals. This accumulation as well as malnutrition caused by the body's inability to use lipids properly result in the signs and symptoms of Wolman disease.

Read more about the LIPA gene.

How do people inherit Wolman disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Wolman disease?

These resources address the diagnosis or management of Wolman disease and may include treatment providers.

You might also find information on the diagnosis or management of Wolman disease in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about Wolman disease?

You may find the following resources about Wolman disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Wolman disease?

  • Acid lipase deficiency
  • Familial Xanthomatosis
  • LAL deficiency
  • LIPA deficiency
  • Liposomal Acid Lipase Deficiency, Wolman Type
  • Lysosomal acid lipase deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about Wolman disease?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding Wolman disease?

adrenal glands ; anemia ; autosomal ; autosomal recessive ; bone marrow ; breakdown ; calcium ; cell ; cholesterol ; deficiency ; developmental delay ; enzyme ; esters ; familial ; gene ; hepatosplenomegaly ; hormone ; inherited ; intestine ; iron ; jaundice ; kidney ; lipase ; lipid ; low muscle tone ; lymph ; metabolism ; muscle tone ; recessive ; triglycerides

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (6 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: October 2007
Published: February 8, 2016