EMJ Hepatology 4 [Suppl 3] . 2016

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Journal Info

Lysosomal acid lipase deficiency (LAL-D), historically known as Wolman’s disease or cholesteryl ester storage disease, is a severe, underdiagnosed, and rare disease associated with significant morbidity and premature mortality. LAL is involved in lipid hydrolysis, and deficiency induces lipid metabolism abnormalities, which affect multiple organ systems including the liver, cardiovascular system, spleen, and gastrointestinal (GI) system