Search for specific clinical trials that are underway using the keyword search below.


Patient support groups also offer information about clinical trials.

Content Provided By

NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

  Print-friendly Version

Acid Lipase Disease

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: 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, jaundice, anemia, vomiting, malnourishment, gastrointestinal problems, and calcium deposits in the adrenal glands, causing them to harden.  Affected children also develop an enlarged liver and grossly enlarged spleen, and the abdomen is distended.  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.  CESD is a less severe variant of Wolman’s disease, with later onset.  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.


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


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


The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health, conducts and funds research to better understand lipid storage diseases such as Wolman’s disease and CESD.  Other researchers are studying the effects of bone marrow or umbilical cord blood transplantation in children with storage diseases and are trying to identify the candidate genes that cause such disorders. 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: .

View a list of studies currently seeking patients.

View more studies on this condition.

<< Back