What is acid lipase disease?

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

Wolman's disease is an autosomal recessive disorder marked by the buildup of cholesteryl esters (normally a transport 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 this disorder appear normal at birth, but 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, a grossly enlarged spleen, and a distended abdomen. Both male and female infants are affected by the disorder.

Cholesteryl ester storage disease (CESD) is an extremely rare disorder resulting from the storage of cholesteryl esters and triglycerides in the blood, 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. They may also develop jaundice and calcium deposits in the adrenal glands. Onset varies, and the disorder may not be diagnosed until adulthood.

This answer is based on source information from National Institute of Neurological Disorders and Stroke.

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