4.0 Article

Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots

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DOI: 10.1016/j.ymgmr.2022.100935

Keywords

Lysosomal acid lipase deficiency (LAL-D); Enzymatic activity; Dried blood spot (DBS); Newborn screening

Funding

  1. National Institutes of Health [R01 DK067859]

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The new enzymatic activity assay using a specific substrate provides an improved method for the diagnosis and prognosis of LAL-D patients, especially for asymptomatic individuals identified through newborn screening.
Background: Lysosomal acid lipase deficiency (LAL-D) is a phenotypic continuum between the severe Wolman disease and the attenuated cholesteryl ester storage disease (CESD).Objective: To study if the amount of residual LAL enzymatic activity in dried blood spots (DBS) correlates with the LAL-D disease severity. Methods: DBS from Wolman and CESD patients, LAL-D carriers, and presumably unaffected random newborns were acquired. LAL enzymatic activity in DBS were measured using a novel, highly specific LAL substrate.Results: Patients with Wolman disease displayed significantly lower LAL enzymatic activity compared to CESD patients. This was not observed with the traditional assay in which a non-specific substrate was used together with an LAL-specific inhibitor.Conclusion: The new LAL enzymatic activity assay using the specific substrate offers an improved biochemical genetics method for the diagnosis of LAL-D in symptomatic patients and more importantly, for the prognosis of asymptomatic patients who test positive in population-wide LAL-D newborn screening.

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