This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Lysosomal acid lipase deficiency is a metabolic lipid storage disease. Two rare conditions may result from this deficiency (likely representing two ends of a clinical spectrum):
Lysosomal acid lipase deficiency is caused by mutations in the LIPA gene, which provides instructions to produce the lysosomal acid lipase enzyme. When there is not enough of this enzyme, the body cannot break down certain fats and this leads to a a toxic buildup of fatty substances in the body’s cells and tissues. Inheritance is autosomal recessive. Enzyme replacement therapy for both Wolman disease and cholesteryl ester storage disease is currently approved for use in the United States, European Union, and Japan.
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