THE DISEASE IS THE ACCUMULATION OF CHOLESTEROL ESTERS DUE TO DEFICIT OF LYSOSOMAL ACID LIPASE. CLINICAL CASE OF LYSOSOMAL ACID LIPASE DEFICIENCY IS DESCRIBED IN THIS ARTICLE

Abstract

Lysosomal acid lipase deficiency (LAL D) is an orphan disease connected with accumulation of cholesterol estersin different organs, interest to this disease increased due to the possibility of enzyme replacement therapy. The article presents a clinical case of verification of LAL D in a child 5 years of age.

Keywords

• lysosomal acid lipase deficiency
• cholesterol ester storage disease
• wolman disease
• sebelipase alfa