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Cholesteryl Ester Storage Disease

Abstract

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NORD is very grateful to Sandro Muntoni, MD, Department of Toxicology, Section of Oncology and Molecular Pathology, Faculty of Medicine, University of Cagliari, Italy, for assistance in the preparation of this report.

Synonyms of Cholesteryl Ester Storage Disease

  • acid cholesteryl ester hydrolase deficiency, type 2
  • CESD
  • cholesterol ester hydrolase deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Cholesteryl ester storage disease (CESD) is a rare genetic disorder characterized by subtotal defect of an enzyme known as lysosomal acid lipase (LIPA or LAL). This enzyme is essential for hydrolysis of triglycerides and cholesteryl esters in lysosomes. CESD is caused by mutations in the lysosomal acid lipase (LIPA) gene. The disorder is inherited as an autosomal recessive trait. Deficiency of the LIPA enzyme causes lipids storage in tissues and organs of the body potentially causing a variety of symptoms. In the liver the consequences are hepatomegaly due to hepatic steatosis and fibrosis that can lead to micronodular cirrhosis. Some individuals may not be diagnosed with CESD until adulthood.

While mutations causing Wolman disease produce an enzyme with no residual activity or no enzyme at all, CESD-causing mutations encode for LAL which retains some enzyme activity Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. CESD belongs to a group of diseases known as lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. Defective lysosomal enzymes associated with CESD leads to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body.

Organizations related to Cholesteryl Ester Storage Disease

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