Last update 01 Nov 2024

Wolman Disease

Basic Info

Synonyms
Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type, Acid Lipase Deficiency, Acid esterase deficiency
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Introduction
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.

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