Abstract
Background and Aims : The LIPA gene encodes the lysosomal acidic lipase (LAL), an enzyme which hydrolyzes cholesterol esters (CE) and triglycerides (TG). Cholesteryl Ester Storage Disease (CESD) is a rare recessive disease caused by mutations in LIPA gene which result in residual LAL activity. Complete LAL deficiency is associated with a more severe form of disease known as Wolman’s disease. Hyperlipidemia and liver steatosis are common clinical features of CESD.
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