Acid lipase disease occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues. These fatty substances, called lipids, include waxes, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase:

There is no specific treatment for Wolman’s disease or CESD. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.

Infants with Wolman’s disease usually die by age 1 from malnutrition. The onset and course of CESD varies, and individuals may live into adulthood.

Prepared by the National Institutes of Health