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

ABSTRACT:

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.

SUBMITTER: Hong X 

PROVIDER: S-EPMC9664517 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature