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 Liposomal Acid Lipase Deficiency, Wolman Type Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type Wolman's Disease Disease, Wolman's Wolmans Disease Familial Xanthomatosis Familial Xanthomatoses Xanthomatoses, Familial Wolman Disease with Hypolipoproteinemia and Acanthocytosis Xanthomatosis, Familial Xanthomatosis, Wolman's Wolman's Xanthomatosis Xanthomatosis, Wolman Xanthomatosis, Wolmans Acid Lipase Deficiency Acid Lipase Deficiencies Deficiencies, Acid Lipase Deficiency, Acid Lipase Lipase Deficiencies, Acid Lipase Deficiency, Acid Lysosomal Acid Lipase Deficiency Cholesterol ester hydrolase deficiency LIPA Deficiency Deficiencies, LIPA Deficiency, LIPA LIPA Deficiencies LAL Deficiency Deficiencies, LAL Deficiency, LAL LAL Deficiencies Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 Acid Lipase Disease Acid Lipase Diseases Disease, Acid Lipase Diseases, Acid Lipase Lipase Disease, Acid Lipase Diseases, Acid