Wolman Disease
Synonyms
Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
Acid Lipase Deficiency
Disease, Wolman
Disease, Wolman's
Familial Xanthomatoses
Familial Xanthomatosis
Liposomal Acid Lipase Deficiency, Wolman Type
Wolman's Disease
Wolman's Xanthomatosis
Wolmans Disease
Xanthomatoses, Familial
Xanthomatosis, Familial
Xanthomatosis, Wolman
Xanthomatosis, Wolman's
Xanthomatosis, Wolmans
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.