Wolman Disease

**Definition:** The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.

**Tree numbers:** - C16.320.565.398.641.201.500 - C16.320.565.595.201.500 - C16.614.947 - C18.452.584.563.641.201.500 - C18.452.648.398.641.201.500 - C18.452.648.595.201.500

**Synonyms:** - Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type - Acid Lipase Deficiency - Cholesterol ester hydrolase deficiency - Familial Xanthomatosis - LAL Deficiency - LIPA Deficiency - Liposomal Acid Lipase Deficiency, Wolman Type - Lysosomal Acid Lipase Deficiency - Wolman Disease with Hypolipoproteinemia and Acanthocytosis - Wolman's Disease - Xanthomatosis, Familial - Xanthomatosis, Wolman's