Catalog

Cholesteryl ester storage disease

No MMS code

Link to WHO Definition

Cholesteryl ester storage disease – http://id.who.int/icd/entity/894336362

Cholesteryl ester storage disease is the term used to group together deficiencies in lysosomal acid lipase associated with a less severe clinical phenotype than that seen in Wolman disease (see this term), with a continuous clinical spectrum between early-onset and severe forms and those that are quasi-asymptomatic, which may reflect variations in the levels of residual acid lipase activity in vivo.