Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.

Abstract excerpt

Cholesteryl ester storage disease (CESD) is an autosomal recessive lysosomal storage disorder caused by a variety of mutations of the LIPA gene. These cause reduced activity of lysosomal acid lipase, which results in accumulation of cholesteryl esters in lysosomes. If enzyme activity is very low/absent, presentation is in infancy with failure to thrive, malabsorption, hepatosplenomegaly and rapid early death...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cholesterol Esters
• Share to Dried Blood Spot Testing
• Share to Dyslipidemias