scholarly journals Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects

2013 ◽  
pp. 107-116 ◽  
Author(s):  
Alfredo Uribe ◽  
Roberto Giugliani
Keyword(s):  
High Risk ◽  
Filter Paper ◽  
Lysosomal Storage Diseases ◽  
Dried Blood Spots ◽  
Selective Screening ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Blood Spots

scholarly journals Hurler-like Phenotype

2001 ◽  
Vol 47 (12) ◽  
pp. 2098-2102 ◽  
Author(s):  
Néstor A Chamoles ◽  
Mariana B Blanco ◽  
Daniela Gaggioli ◽  
Carina Casentini
Keyword(s):  
Enzyme Activities ◽  
Lysosomal Storage Diseases ◽  
Dried Blood Spots ◽  
Lysosomal Storage ◽  
Testing Laboratory ◽  
Storage Diseases ◽  
Blood Spots ◽  
Sample Stability ◽  
Mucolipidosis Ii ◽  
Radioactive Substrate

Abstract Background: Clinical differentiation among mucopolysaccharidosis, oligosaccharidosis, and mucolipidosis II and III is difficult. We describe methods for the assay of 8 lysosomal enzymes in dried blood spots on filter paper that allow screening for 12 lysosomal storage diseases that present with a Hurler-like phenotype. Methods: To test tubes containing 3-mm blood spots, we added elution liquid and fluorescent or radioactive substrate solution. After incubation at 37 °C, the reaction was terminated by the addition of a stop buffer. The amount of hydrolyzed product was compared with a calibrator to allow the quantification of enzyme activity. Sample stability was studied during storage for 21 days and during shipment of samples. We measured enzyme activities in 85 healthy controls (35 newborn, 50 adult), 57 patients suffering from 11 lysosomal storage diseases, and 46 obligate carriers. Results: Intra- and interassay CVs were <9% and <15%, respectively. Mean activity losses during transportation or storage for up to 21 days at 4 °C were ≤27%. Enzyme activities in all patients were outside the ranges of values seen for carriers and controls. Conclusions: The described methodology distinguishes between patients and controls with samples that are sufficiently stable to be mailed to the testing laboratory.

Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots

2011 ◽  
Vol 102 (1) ◽  
pp. 44-48 ◽  
Author(s):  
L.F. Oemardien ◽  
A.M. Boer ◽  
G.J.G. Ruijter ◽  
A.T. van der Ploeg ◽  
J.B.C. de Klerk ◽  
...  
Keyword(s):  
Lysosomal Storage Diseases ◽  
Dried Blood Spots ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Diagnostic Assays ◽  
Blood Spots

Application of a flowchart for the detection of lysosomal storage diseases in 105 high-risk Brazilian patients

1990 ◽  
Vol 37 (4) ◽  
pp. 534-538 ◽  
Author(s):  
Maria Luiza Barth ◽  
Roberto Giugliani ◽  
Sandra L. Goldenfum ◽  
Roberta Munarski ◽  
Adriana Folberg ◽  
...  
Keyword(s):  
High Risk ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Storage Diseases

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

2006 ◽  
Vol 372 (1-2) ◽  
pp. 98-102 ◽  
Author(s):  
Gabriel Civallero ◽  
Kristiane Michelin ◽  
Jurema de Mari ◽  
Marli Viapiana ◽  
Maira Burin ◽  
...  
Keyword(s):  
Filter Paper ◽  
Lysosomal Storage Diseases ◽  
Enzyme Assays ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Blood Filter

Effect of sample collection, temperature and time of storage on β-galactosidase and total hexosaminidase activities in dried blood collected on filter paper

2011 ◽  
Vol 49 (8) ◽  
Author(s):  
Cristina D. de Castilhos ◽  
Jamila Mezzalira ◽  
Mariana P.S. Goldim ◽  
Frederico G. Werlang ◽  
Janice C. Coelho
Keyword(s):  
Filter Paper ◽  
Clinical Chemistry ◽  
Sampling Technique ◽  
Lysosomal Storage Diseases ◽  
Dried Blood Spots ◽  
Methodological Error ◽  
Lysosomal Storage ◽  
Sample Collection ◽  
Entire Study ◽  
Different Temperatures

AbstractDried blood spots (DBS) on filter paper is a valuable sampling technique in clinical chemistry, but the stability of enzymes used in the diagnosis of lysosomal storage diseases (LSDs) needs to be evaluated.In a first experiment, blood from 20 subjects was collected using a syringe without additives and distributed into EDTA tubes, heparin tubes, and spotted on filter paper for the comparison of sampling effects. In a second experiment, blood from 30 healthy subjects was spotted on filter paper and analyzed for β-galactosidase and total hexosaminidase activities after storage of the samples at different temperatures for up to 180 days.Initially, we observed that enzyme activities were the same, independent of the collection method. When DBS was stored at 37°C the activity of β-galactosidase dropped to 85% of the initial value after 180 days (p<0.05). At all other temperatures (–20°C, 4°C and 25°C), the results were within the methodological error. Total hexosaminidase activity did not change significantly during the entire study period and at different storage temperatures.The two enzymes investigated in the present study may be stored for up to 17 days (β-galactosidase) or 180 days (total hexosaminidase) until analysis without loss of activity.

scholarly journals Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots

2018 ◽  
Vol 5 (1) ◽  
pp. 1 ◽  
Author(s):  
Michael Gelb ◽  
Zoltan Lukacs ◽  
Enzo Ranieri ◽  
Peter Schielen
Keyword(s):  
Newborn Screening ◽  
Digital Microfluidics ◽  
Lysosomal Storage Diseases ◽  
Dried Blood Spots ◽  
Enzymatic Activities ◽  
Lysosomal Storage ◽  
Blood Spots ◽  
Positive Rate ◽  
Control And Prevention ◽  
Case Basis

All worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is performed as a first-tier test by measurement of lysosomal enzymatic activities in dried blood spots (DBS). The currently two available methodologies used for measurement of enzymatic activities are tandem mass spectrometry (MS/MS) and digital microfluidics fluorimetry (DMF-F). In this chapter we summarize the workflows for the two platforms. Neither platform is fully automated, but the relative ease of workflow will be dependent upon the specific operation of each newborn screening laboratory on a case-by-case basis. We provide the screen positive rate (the number of below cutoff newborns per 100,000 newborns) from all NBS laboratories worldwide carrying out MS/MS-based NBS of one or more LSDs. The analytical precision of the MS/MS method is higher than that for DMF-F as shown by analysis of a common set of quality control DBS by the Centers for Disease Control and Prevention (CDC). Both the MS/MS and DMF-F platforms enable multiplexing of the LSD enzymes. An advantage of MS/MS over DMF-F is the ability to include assays of enzymatic activities and biomarkers for which no fluorimetric methods exist. Advantages of DMF-F over MS/MS are: (1) simple to use technology with same-day turn-around time for the lysosomal enzymes with the fastest rates compared to MS/MS requiring overnight analytical runs.; (2) the DMF-F instrumentation, because of its simplicity, requires less maintenance than the MS/MS platform.

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