Cholesteryl ester storage disease

A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.

Also known as: LAL deficiency, partial, LIPA deficiency, partial, cholesterol ester hydrolase deficiency, partial, cholesterol ester storage disease, lysosomal acid lipase deficiency, partial, CESD, lysosomal and lipase deficiency

1 clinical trial for this condition and its sub-types, 1 tagged with Cholesteryl ester storage disease itself.