ArticleMolecular genetics and metabolism2017
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.
Article in Molecular genetics and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 47 citations in OpenAlex.
- Drug screen and machine learning predict neuroprotective agents in a preclinical human model of childhood dementia.Nature communications · 2026Article
- Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes.International journal of neonatal screening · 2026Review
- Synthesis of and characterization of differentially sulfated disaccharide repeating units of keratan sulfate.Glycoscience & therapy · 2026Article
- Development and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.Disease models & mechanisms · 2026Article
- Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA.Current issues in molecular biology · 2025Article
- Peripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization.American journal of ophthalmology · 2025Observational
- Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches.Clinical proteomics · 2025Review
- Article
- Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.International journal of molecular sciences · 2025Article
- Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.International journal of molecular sciences · 2025Article
- Lentiviral Vector-MediatedHuman gene therapy · 2024Article
- Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineeredHeliyon · 2024Article
- Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.Molecular genetics and metabolism reports · 2023Article
- Detection of Glycosaminoglycans in Biological Specimens.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II.International journal of neonatal screening · 2022Article
- Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders.Diagnostics (Basel, Switzerland) · 2021Article
- Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.Diagnostics (Basel, Switzerland) · 2021Article
- Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I.Archives of disease in childhood · 2021Observational
- Development of Strategies to Decrease False Positive Results in Newborn Screening.International journal of neonatal screening · 2020Review
- Advances in glycosaminoglycan detection.Molecular genetics and metabolism · 2020Review
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 6 countries.
Funding
Abstract
Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs. Assays using tandem mass spectrometry (MS/MS) have been established to measure GAGs in serum or plasma from MPS and ML patients, but few studies were performed to determine whether these assays are sufficiently robust to measure GAG levels in dried blood spots (DBS) of patients with MPS and ML. MATERIAL AND
methodsIn this study, we evaluated GAG levels in DBS samples from 124 MPS and ML patients (MPS I=16; MPS II=21; MPS III=40; MPS IV=32; MPS VI=10; MPS VII=1; ML=4), and compared them with 115 age-matched controls. Disaccharides were produced from polymer GAGs by digestion with chondroitinase B, heparitinase, and keratanase II. Subsequently, dermatan sulfate (DS), heparan sulfate (HS-0S, HS-NS), and keratan sulfate (mono-sulfated KS, di-sulfated KS, and ratio of di-sulfated KS in total KS) were measured by MS/MS.
resultsUntreated patients with MPS I, II, VI, and ML had higher levels of DS compared to control samples. Untreated patients with MPS I, II, III, VI, and ML had higher levels of HS-0S; and untreated patients with MPS II, III and VI and ML had higher levels of HS-NS. Levels of KS were age dependent, so although levels of both mono-sulfated KS and di-sulfated KS were generally higher in patients, particularly for MPS II and MPS IV, age group numbers were not sufficient to determine significance of such changes. However, the ratio of di-sulfated KS in total KS was significantly higher in all MPS patients younger than 5years old, compared to age-matched controls. MPS I and VI patients treated with HSCT had normal levels of DS, and MPS I, VI, and VII treated with ERT or HSCT had normal levels of HS-0S and HS-NS, indicating that both treatments are effective in decreasing blood GAG levels.
conclusionMeasurement of GAG levels in DBS is useful for diagnosis and potentially for monitoring the therapeutic efficacy in MPS.
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