ArticlePloS one2015
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 38 citations in OpenAlex.
- Elevated urinary glycosaminoglycans inJournal of medical microbiology · 2026Article
- Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches.Clinical proteomics · 2025Review
- A novel homozygous missense variant inGenes & diseases · 2024Article
- Specific GAG ratios in the diagnosis of mucopolysaccharidoses.JIMD reports · 2024Article
- A glycomic workflow for LC-MS/MS analysis of urine glycosaminoglycan biomarkers in mucopolysaccharidoses.Glycoconjugate journal · 2023Article
- Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.Journal of medical genetics · 2022Article
- Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in theFrontiers in pediatrics · 2022Article
- Mucolipidoses Overview: Past, Present, and Future.International journal of molecular sciences · 2020Review
- Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Article
- Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.Orphanet journal of rare diseases · 2019Article
- Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.Orphanet journal of rare diseases · 2019Article
- Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.Journal of child neurology · 2019Review
- Lysosomal diseases: Overview on current diagnosis and treatment.Genetics and molecular biology · 2019Article
- GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.BMC medical genetics · 2018Article
- Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.Journal of inherited metabolic disease · 2018Review
- Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1.Scientific reports · 2018Article
- Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.Molecular genetics and metabolism · 2017Article
- Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.American journal of human genetics · 2017Article
- Biomarkers in Lysosomal Storage Diseases.Diseases (Basel, Switzerland) · 2016Review
- The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry.Molecular genetics and metabolism reports · 2016Article
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionDiagnosis of the mucopolysaccharidoses (MPSs) generally relies on an initial analysis of total glycosaminoglycan (GAG) excretion in urine. Often the dimethylmethylene blue dye-binding (DMB) assay is used, although false-negative results have been reported. We report a multiplexed diagnostic test with a high sensitivity for all MPSs and with the potential to identify patients with I-cell disease (ML II) and mucolipidosis III (ML III).
methodsUrine samples of 100 treatment naive MPS patients were collected and analyzed by the conventional DMB assay and a multiplex assay based on enzymatic digestion of heparan sulfate (HS), dermatan sulfate (DS) and keratan sulfate (KS) followed by quantification by LC-MS/MS. Specificity was calculated by analyzing urine samples from a cohort of 39 patients suspected for an inborn error of metabolism, including MPSs.
resultsThe MPS cohort consisted of 18 MPS I, 16 MPS II, 34 MPS III, 10 MPS IVA, 3 MPS IVB, 17 MPS VI and 2 MPS VII patients. All 100 patients were identified by the LC-MS/MS assay with typical patterns of elevation of HS, DS and KS, respectively (sensitivity 100%). DMB analysis of the urine was found to be in the normal range in 10 of the 100 patients (sensitivity 90%). Three out of the 39 patients were identified as false-positive, resulting in a specificity of the LS-MS/MS assay of 92%. For the DMB this was 97%. All three patients with MLII/MLIII had elevated GAGs in the LC-MS/MS assay while the DMB test was normal in 2 of them.
conclusionThe multiplex LC-MS/MS assay provides a robust and very sensitive assay for the diagnosis of the complete spectrum of MPSs and has the potential to identify MPS related disorders such as MLII/MLIII. Its performance is superior to that of the conventional DMB assay.
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