Beta-glucuronidase activity in dried blood spots: Reduced technique with biochemical parameters determined

Cé, Jaqueline; Rodrigues, Melissa Tôrres; Käfer, Eduarda Tassoni; Moraes, Vitória da Costa; Coelho, Janice Carneiro

doi:10.1016/j.clinbiochem.2017.09.022

Cited by 1 publication

(2 citation statements)

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“…The fluorimetric newborn screening assays for MPS IIIB, MPS IVB, MPS VI, and MPS VII (illustrated in Figure 2) are also based on single step reactions [44,45]. MPS VII (β-glucuronidase (GUSB) deficiency) can be identified using a single step fluorescent reaction with the 4-MU glucuronide substrate [46]. For MPS IIIB, the substrate, 4-methylumbelliferyl-2-acetamido-2-deoxy-α-d-glucopyranoside, is utilized, and enzymatic cleavage liberates fluorescent 4-MU upon N-acetylglucosaminidase (NAG)-mediated cleavage of glycoside.…”

Section: One-step Hydrolysis Assaysmentioning

confidence: 99%

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Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses

et al. 2020

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Interest in newborn screening for mucopolysaccharidoses (MPS) is growing, due in part to ongoing efforts to develop new therapies for these disorders and new screening assays to identify increased risk for the individual MPSs on the basis of deficiency in the cognate enzyme. Existing tests for MPSs utilize either fluorescence or mass spectrometry detection methods to measure biomarkers of disease (e.g., enzyme function or glycosaminoglycans) using either urine or dried blood spot (DBS) samples. There are currently two approaches to fluorescence-based enzyme function assays from DBS: (1) manual reaction mixing, incubation, and termination followed by detection on a microtiter plate reader; and (2) miniaturized automation of these same assay steps using digital microfluidics technology. This article describes the origins of laboratory assays for enzyme activity measurement, the maturation and clinical application of fluorescent enzyme assays for MPS newborn screening, and considerations for future expansion of the technology.

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Section: One-step Hydrolysis Assaysmentioning

confidence: 99%

“…An orthogonal measurement of GAGs is recommended to delineate between MPS IVB and GM1 gangliosidosis [47]. All of these single-step enzyme assays have been published using standard multiwell plate fluorimetry [44][45][46][47] and have recently been automated on the DMF-F platform [49].…”

Section: One-step Hydrolysis Assaysmentioning

confidence: 99%