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NINDS Acid Lipase Disease Information Page

Synonym(s):  Cholesterol Ester Storage Disease, Wolman’s Disease

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What is Acid Lipase Disease ?

Acid lipase disease or deficiency 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 fatty acids, oils, and cholesterol.  Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase:

Wolman’s disease (also known as acid lipase deficiency) is an autosomal recessive disorder marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body).  Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone,enlarged liver and grossly enlarged spleen, gastrointestinal problems including an excessive amount of fats in the stools, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, which causes them to harden.  Both male and female infants are affected by the disorder.

Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue.  Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood.  Children may also develop calcium deposits in the adrenal glands and jaundice.  Onset varies, and the disorder may not be diagnosed until adulthood.

Is there any treatment?

Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation.  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.

What is the prognosis?

Wolman’s disease is usually fatal by age 1.  The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood.

What research is being done?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS)  is to seek fundamental knowledge abut the brain and nervous system, and to use that knowledge to reduce the burden of neurological diseaset.  The NINDS conducts and supports research to understand lipid storage diseases such as acid lipase deficiency.  Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for thee lipid storage diseases that will speed the development of novel therapeutics for these disorders.  Other investigators hope to establish an international disease registry designed to collect longitudinal data that would be used to improve the care and treatment of individuals with lysosomal acid lipase deficiency.

The National Library of Medicine (NLM), a part of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, offers free searches of biomedical literature through an Internet service called PubMed.  To search, go to: .  The NLM also offers extensive health information from NIH and other trusted sources.  To research your condition, go to: .

NIH Patient Recruitment for Acid Lipase Disease Clinical Trials

Related NINDS Publications and Information

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last Modified February 23, 2016