Wolman Disease

Wolmans sjukdom

Engelsk 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.

Svenska synonymer

Familjär xantomatos Lysosomal syralipasbrist, Wolman typ

Engelska synonymer

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