Lysosomal Acid Lipase Activity MaxSpec^® Assay Kit

Lysosomal acid lipase (LAL) is a lysosomal enzyme that hydrolyzes cholesteryl esters and triglycerides to produce cholesterol, glycerol, and free fatty acids.¹ LAL deficiency is due to mutations in the LAL gene, LIPA, that lead to decreases in LAL activity. Wolman's disease is a severe form of LAL deficiency that begins in infancy and is characterized by a nearly complete or complete lack of LAL activity resulting in gastrointestinal disorders, hepatomegaly, and failure to thrive, leading to hypercholesterolemia and fatality within months without treatment. Cholesterol ester storage disorder is a less severe form of LAL deficiency in which LAL activity is reduced but not abolished. It presents later in life and is characterized by gastrointestinal disturbances, dyslipidemia, hepatomegaly, and impaired liver function. Research towards development of methods to detect deficiency in this enzyme has become an important goal in diagnosing and treating individuals with this disorder.

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1. Pericleous, M., Kelly, C., Wang, T., et al. Wolman’s disease and cholesteryl ester storage disorder: The phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol. Hepatol. 2(9), 670-679 (2017).

Ohira, M., Barr, M., Okuyama, T., et al. LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots. Mol. Genet. Metab. Rep. 33, 100913 (2022).