Expert recommendations for the laboratory diagnosis of MPS VI

Wood, Timothy C.; Bodamer, Olaf A.; Burin, Maira Graeff; D’Almeida, Vânia; Fietz, Michael; Giugliani, Roberto; Hawley, Sara M.; Hendriksz, Christian J.; Hwu, Wuh‐Liang; Ketteridge, David; Lukács, Zoltán; Mendelsohn, Nancy J.; Miller, Nicole L.; Pasquali, Marzia; Schenone, Andrea; Schoonderwoerd, Kees; Winchester, Bryan; Harmatz, Paul

doi:10.1016/j.ymgme.2012.02.005

Cited by 39 publications

(63 citation statements)

References 60 publications

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“…Fluorescence was read on a Victor D instrument (Wallace Oy, Turku, Finland). Enzyme activities were expressed as nmol per 21 h and per punch and compared with laboratory-specific reference values (M€ uller et al 2010;Wood et al 2012). Details on the individual ranges are shown in Table 2.…”

Section: Measurement Of Enzyme Activitymentioning

confidence: 99%

“…If a-iduronidase, iduronate-2-sulphatase or arylsulphatase B activity was below the normal reference range and with a value consistent with enzyme activities of patients with established diagnosis, samples were considered as putatively positive for MPS I, MPS II or MPS VI, respectively. If activities of at least two of the three enzymes tested were elevated or in the upper reference range, while b-galactosidase activity was within the normal range, patients were considered potentially having ML II/III (Gusina and Tsukerman 1988;Wood et al 2012). To rule out multiple sulphatase deficiency, activities of both sulphatases (and possibly other sulphatases) were determined in parallel (Scarpa et al 2011;Wood et al 2012).…”

Section: Enzymatic and Molecular Genetic Analyses On Dried Blood Spotsmentioning

confidence: 99%

“…Although urinary GAG analysis can be useful for screening, it is not sufficiently sensitive to rule out MPS in case of a negative test result. Consequently, measurement of enzyme activities -conventionally on leukocytes or cultured fibroblasts -is currently the gold standard for diagnosing a specific MPS disorder (Muenzer 2011;Muenzer et al 2009;Scarpa et al 2011;Wood et al 2012). However, enzyme activities in leukocytes are very sensitive to prolonged shipping or unfavourable environmental conditions, while analysing cultured fibroblasts requires skin biopsy for sample collection and an expensive and lengthy procedure, taking a long time before results become available (for recent review see Wood et al 2012).…”

Section: Introductionmentioning

confidence: 99%

“…Consequently, measurement of enzyme activities -conventionally on leukocytes or cultured fibroblasts -is currently the gold standard for diagnosing a specific MPS disorder (Muenzer 2011;Muenzer et al 2009;Scarpa et al 2011;Wood et al 2012). However, enzyme activities in leukocytes are very sensitive to prolonged shipping or unfavourable environmental conditions, while analysing cultured fibroblasts requires skin biopsy for sample collection and an expensive and lengthy procedure, taking a long time before results become available (for recent review see Wood et al 2012). Therefore, dried blood spots/specimens (DBS) -obtained by drying a small blood volume on filter paper -represent a convenient alternative sample type, offering advantages in terms of ease of collection, storage and transportation (Reuser et al 2011).…”

Section: Introductionmentioning

confidence: 99%

“…DNA extracted from blood or saliva samples is most commonly used for this purpose (Wood et al 2012). However, some recent studies have shown that genotyping is also feasible on DNA extracted from a DBS (Harahap et al 2012;Hollegaard et al 2011;Quraishi et al 2012).…”

Section: Introductionmentioning

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: Measurement Of Enzyme Activitymentioning

confidence: 99%

Section: Enzymatic and Molecular Genetic Analyses On Dried Blood Spotsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

Cobos¹,

Steglich²,

Santer³

et al. 2014

JIMD Reports

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The role of automated analyzers in detecting abnormal granulation of leucocytes in lysosomal storage diseases: Maroteaux–Lamy disease

et al. 2013

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Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in theARSBgene

et al. 2018

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Maroteaux–Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, commonly diagnosed through clinical findings and deficiency of the arylsulfatase B (ASB) enzyme. Detection of ARSB pathogenic variants can independently confirm diagnosis and render genetic counseling possible. In this review, we collect and summarize 908 alleles (201 distinct variants, including 3 polymorphisms previously considered as disease‐causing variants) from 478 individuals diagnosed with MPS VI, identified from literature and public databases. Each variant is further analyzed for clinical classification according to American College of Medical Genetics and Genomics (ACMG) guidelines. Results highlight the heterogeneity of ARSB alleles, with most unique variants (59.5%) identified as missense and 31.7% of unique alleles appearing once. Only 18% of distinct variants were previously recorded in public databases with supporting evidence and clinical significance. ACMG recommends publishing clinical and biochemical data that accurately characterize pathogenicity of new variants in association with reporting specific alleles. Variants analyzed were sent to ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/), and MPS VI locus‐specific database (http://mps6-database.org) where they will be available. High clinical suspicion coupled with diagnostic testing for deficient ASB activity and timely submission and classification of ARSB variants with biochemical and clinical data in public databases is essential for timely diagnosis of MPS VI.

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Expert recommendations for the laboratory diagnosis of MPS VI

Cited by 39 publications

References 60 publications

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

The role of automated analyzers in detecting abnormal granulation of leucocytes in lysosomal storage diseases: Maroteaux–Lamy disease

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in theARSBgene

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