Mesh term Wolman Disease
Browse to parent terms:Cholesterol Ester Storage Disease
Infant, Newborn, Diseases
Description
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.Search for this term in our Faculty Database
View this term at the NCBI website
