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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.
Entry Version
WOLMAN DIS
Entry Term(s)
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
Acid Lipase Deficiency
Acid Lipase Disease
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
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.