Wolman disease

The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (CHOLESTEROL 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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