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LAL-D, previously known as Wolman disease (infants) and CESD (children and adults), is a single, genetic disease caused by mutations in LIPA, the gene that encodes for the vital lysosomal acid lipase (LAL) enzyme.1,2
Mechanism of Disease
In cells missing the vital LAL enzyme, upregulation of cholesterol synthesis resulting from cellular dysfunction leads to ongoing lysosomal accumulation.1,3 The video below shows this mechanism.
LAL-D patients are at persistent risk of devastating consequences–early diagnosis is critical1