Cholesteryl ester storage disease
Cholesteryl ester storage disease
Definition
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 cholesterol ester hydrolase deficiency, partial, cholesterol ester storage disease, LAL deficiency, partial, LIPA deficiency, partial, lysosomal acid lipase deficiency, partial — per MONDO