MeSH Browser

MeSH Supplementary: Lysosomal acid lipase deficiency
Unique ID: C531854
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C531854
Entry Term(s): Acid cholesteryl ester hydrolase deficiency, type 2; Acid lipase disease; Cholesterol ester hydrolase deficiency; LAL Deficiency; LIPA deficiency
Registry Number: 0
Heading Mapped to: *Wolman Disease
Frequency: 111
Note: An autosomal recessive disorder caused by mutations in the LIPA gene. It is characterized by tissue accumulation of CHOLESTEROL ESTERS and TRIGLYCERIDES and the chemical and enzymatic abnormalities are similar to Wolman DIsease. However, cholesterol ester storage disease is less severe. Accumulation of neutral fats and cholesterol esters in the arteries predispose affected persons to ATHEROSCLEROSIS and HYPERCHOLESTEROLEMIA is common. Massive HEPATOMEGALY and LIVER FIBROSIS may lead to ESOPHAGEAL VARICES. OMIM: 278000
Date of Entry: 2010/08/25
Revision Date: 2015/09/26

Lysosomal acid lipase deficiency MeSH Supplementary Concept Data 2023