Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

Blanchard, Sophie; Sadı́lek, Martin; Scott, C. Ronald; Tureček, František; Gelb, Michael H.

doi:10.1373/clinchem.2008.115410

Cited by 101 publications

(99 citation statements)

References 8 publications

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“…The advantage of using DBS for enzymatic diagnosis of MPS and ML II/III has been demonstrated (Chamoles et al 2001b;Chamoles et al 2001a). In the past years, fluorometric methods, immunocapture enzyme assays and even high-throughput tandem mass spectrometry assays have been developed and optimised to allow (large-scale) screening for LSDs (Blanchard et al 2008;Dean et al 2006;Duffey et al 2010a;Duffey et al 2010b;Fuller et al 2011;Reuser et al 2011;Wang et al 2007;Wolfe et al 2011). However, all studies using DBS were feasibility studies, including only patients with a confirmed diagnosis of MPS.…”

Section: Discussionmentioning

confidence: 99%

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Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

Cobos¹,

Steglich²,

Santer³

et al. 2014

JIMD Reports

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Background: As patients with different types of mucopolysaccharidosis (MPS) and mucolipidosis (ML) may present with overlapping clinical features -including coarse face, hepatosplenomegaly, bone dysplasia and claw-hand deformities, collectively also called 'MPS-like phenotype', enzymatic and/or molecular genetic analyses are indispensable for accurate diagnosis and applying specific therapy. In this prospective study, we screened patients with symptoms compatible with MPS for MPS I, II (males) and VI.Methods: Dried blood spots/specimens (DBS) were collected from 200 patients with an MPS-like phenotype and analysed for activities of a-iduronidase (IDUA), iduronate-2-sulphatase (IDS), and arylsulphatase B (ARSB), the enzymes deficient in mucopolysaccharidosis (MPS) type I, II and VI, respectively. For the samples with pathologic enzyme activity, mutational analysis was carried out using the same DBS.Results: Based on enzymatic analysis of 200 DBS samples, a total of 45 (22.5%) showed low activity; 17 for MPS I (8.5%), 11 for MPS II (5.5%) and 9 for MPS VI (4.5%). Enzyme activities were suggestive for ML II/III in 8 (4.0%) cases. For 41 (91.1%) samples, DNA could be extracted from the filter paper. Mutations were identified in 11 (64.7%), 11 (100%), 9 (100%) and 5 (62.5%) patients putatively diagnosed biochemically with MPS I, II, VI, and ML II/III, respectively.Conclusions: DBS enzymatic analysis can be used to diagnose MPS/ML. Initial results should be confirmed by a second enzyme assay and/or by molecular genetic testing. Given the advantages of DBS over other sample types in terms of ease of collection, storage and transportation, DBS are particularly useful for screening patients with an MPS-like phenotype in regions lacking specialised laboratories. In order to ascertain the diagnosis in a large number of cases, patients should be assessed in parallel for at least MPS I, II and VI.

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Section: Discussionmentioning

confidence: 99%

“…So far, several studies have shown the feasibility of the enzymatic diagnosis of MPS I, II or VI using DBS (Blanchard et al 2008;Chamoles et al 2001a;Chamoles et al 2001b;Dean et al 2006;Duffey et al 2010a;Duffey et al 2010b;Fuller et al 2011;Wang et al 2007;Wolfe et al 2011). However, none of these studies had a prospective design, i.e.…”

Section: Introductionmentioning

confidence: 99%

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

Cobos¹,

Steglich²,

Santer³

et al. 2014

JIMD Reports

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“…NBS for five LSDs (Gaucher, Krabbe, Pompe, Fabry, and Niemann-Pick A/B) was described via the measurement of the respective enzyme activities in dried blood spots (DBS) from a single sample preparation with MS/MS (Blanchard et al 2008).…”

Section: Introductionmentioning

confidence: 99%

Newborn Screening for Lysosomal Storage Disorders in Hungary

et al. 2012

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“…Three separate preparations of each dilution were measured 5 times, and CV calculated as the standard deviation divided by mean × 100. It is estimated that each 3.3 mm dried blood spot disc corresponds to 3.6 μL of blood (Blanchard et al, 2008), and that concentrations of all the GAGs analyzed in this study were expressed as ng/mL of blood.…”

Section: Discussionmentioning

confidence: 99%

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

Kubaski

Mason

Nakatomi

et al. 2017

Molecular Genetics and Metabolism

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Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

Abstract: BACKGROUND:Treatments now available for mucopolysaccharidosis I require early detection for optimum therapy. Therefore, we have developed an assay appropriate for newborn screening of the activity of the relevant enzyme, ␣-L-iduronidase.

Cited by 101 publications

References 8 publications

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

Newborn Screening for Lysosomal Storage Disorders in Hungary

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

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