Wolman disease

Wolman disease is a rare condition that represents the most severe form of lysosomal acid lipase deficiency. This enzyme is important for breaking down fats such as esterified cholesterol and triglycerides within cells. When the enzyme does not work as it should, lipids build up in many tissues of the body. People with milder forms of this enzyme deficiency are generally said to have cholesterol ester storage disease. In Wolman disease, however, the enzyme deficiency is severe, leading to a significant accumulation of lipids in tissues. This overview is based on trusted biomedical sources that help describe the impact of this condition.

Information about symptoms is currently limited for this condition.

Wolman disease is caused by a deficiency in the acid lipase enzyme, which plays a key role in breaking down fats within cells. Changes in the LIPA gene are linked to this deficiency. The lack of proper enzyme activity leads to a build-up of fats in many tissues.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.