Abstract
The lysosomal acid lipase deficit (LAL) is a recessive autosomal hereditary disease
characterized by the accumulation of esters of cholesterol and triglycerides, particularly in the lysosomes of the liver, spleen, intestinal and blood vessels cells. This rare metabolic disease is caused by mutations in the lipase A gene (LIPA) that encodes the LAL enzyme, which plays a major role in metabolism and lipid degradation. More than 40 mutations have been identified that can lead to the loss or reduction of enzymatic activity leading to the accumulation of cholesterol and triglyceride esters
Keywords
Sebelipasa alpha; Lysosomal acid lipase; Cholesterol ester accumulation disease
Bibliographic citation
Programa d'harmonització farmacoterapèutica. Sebelipasa alfa per al tractament del dèficit de lipasa àcida lisosòmica. Barcelona: Servei Català de la Salut; 2017.
Audience
Professionals
Use this identifier for quote and/or link this document
https://hdl.handle.net/11351/4280This item appears in following collections
The following license files are associated with this item: