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Article

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

Molecular genetics and metabolism - 1 Mar 2012

Fasano Tommaso, Pisciotta Livia, Bocchi Letizia, Guardamagna Ornella, Assandro Paola, Rabacchi Claudio, Zanoni Paolo, Filocamo Mirella, Bertolini Stefano, Calandra Sebastiano

Abstract excerpt

Wolman Disease (WD) and cholesteryl ester storage disease (CESD) represent two distinct phenotypes of the same recessive disorder caused by the complete or partial deficiency of lysosomal acidic lipase (LAL), respectively. LAL, encoded by the LIPA gene, hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. WD is a rapidly progressive and lethal disease characterized by intestinal...

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PMID: 22227072
DOI: 10.1016/j.ymgme.2011.12.008

Genes

LIPA

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