Phenotypic expression and genotype analysis of eleven patients with cholesteryl ester storage disease and identification of a novel lipa gene variant

Background: Cholesteryl ester storage disease (CESD) is a recessive disorder due to a defect of Lysosomal Acid Lipase (LAL) that hydrolyses cholesteryl esters and triglycerides derived from internalized apoB containing lipoproteins. The disease is characterized by a multi-organ involvement including liver, spleen, intestine and cardiovascular system inducing premature atherosclerosis.

Source: Nutrition, Metabolism, and Cardiovascular Diseases : NMCD - December 31, 2016 Category: Nutrition Authors: L. Pisciotta, G. Tozzi, Travaglini, R. Taurisano, T. Lucchi, G. Indolfi, F. Papadia, M. Di Rocco, L. D'Antiga, H. Michelakakisi, A. Garoufij, S. Bertolini, S. Calandra Source Type: research