Chapter 4 - Endocrine, nutritional and metabolic diseases (E00-E89)»Metabolic disorders (E70-E88)»Other lipid storage disorders (E75.5)
E75.5
Other lipid storage disorders
Related indications (MeSH) (1)
Wolman Disease14 drugs (11 approved, 3 experimental)
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.