Cholesterol Ester Storage Disease

**Definition:** An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.

**Tree numbers:** - C16.320.565.398.641.201 - C16.320.565.595.201 - C18.452.584.563.641.201 - C18.452.648.398.641.201 - C18.452.648.595.201

**Synonyms:** - Cholesteryl Ester Storage Disease