Acid lipase disease

• Article
• 2021-03-02

Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats that are normally digested by the body is missing or missing, resulting in the toxic build-up of these fats in the cells and tissues of the body . 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, both of which are interpreted to affect both men and women.

• Wolman's disease (also known as acid lipase deficiency) is characterized by the build-up of cholesteryl esters (normally a form of transporter of cholesterol that carries nutrients into cells and removes waste) and triglycerides (a chemical form in which fats are found in the body). Babies with the disorder look normal at birth but quickly develop progressive mental decline, low muscle tone, enlarged liver and greatly enlarged spleen, gastrointestinal problems, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, causing them to harden.
• Cholesteryl ester storage disease (CESD) is an extremely rare condition that results from the storage of cholesteryl esters and triglycerides in cells in the blood and in lymph and lymphoid tissues. Children develop an enlarged liver, which leads to cirrhosis and chronic liver failure before adulthood. Children can also develop adrenal calcium deposits and jaundice. Onset varies and the disorder may not be diagnosed until adulthood.

Therapy

Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain medications may be given to aid in adrenal production, and children may need to be fed intravenously. People with CESD may benefit from a low-cholesterol diet.

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