ArticleMolecular genetics and metabolism reports2020
Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 33 citations in OpenAlex.
- Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.Biochemistry and biophysics reports · 2026Article
- Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches.Clinical proteomics · 2025Review
- Quantitative analysis of targeted lipidomics in the hippocampus of APP/PS1 mice employing the UHPLC-MS/MS method.Frontiers in aging neuroscience · 2025Article
- A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.International journal of neonatal screening · 2024Review
- Production of active human iduronate-2-sulfatase (IDS) enzyme in Nicotiana benthamiana.Scientific reports · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.Orphanet journal of rare diseases · 2024Review
- Biochemical signatures of disease severity in multiple sulfatase deficiency.Journal of inherited metabolic disease · 2024Article
- Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening.Frontiers in pediatrics · 2024Article
- 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
- Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy.Molecular genetics & genomic medicine · 2021Article
- Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.Diagnostics (Basel, Switzerland) · 2021Article
- 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
- Epidemiology of Mucopolysaccharidoses Update.Diagnostics (Basel, Switzerland) · 2021Review
- Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.International journal of neonatal screening · 2020Article
- Development of Strategies to Decrease False Positive Results in Newborn Screening.International journal of neonatal screening · 2020Review
- Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I.International journal of neonatal screening · 2020Article
- Newborn screening of mucopolysaccharidoses: past, present, and future.Journal of human genetics · 2020Review
- A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.International journal of neonatal screening · 2020Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidoses (MPS) are a family of lysosomal storage disorders which can lead to degenerative and irreversible skeletal, cardiovascular, pulmonary, and neurological damage. Current treatments, including hematopoietic stem cell transplantation and enzyme replacement therapy, have been found most effective if administered before clinical symptoms are present, highlighting the urgent need for the development of newborn screening. This study analyzed 18,222 dried blood spot samples from newborns for both enzyme activity and glycosaminoglycan (GAG) concentration levels. GAG levels were measured using liquid chromatography tandem mass spectrometry. Results were compared to our previously established cutoff values for three subtypes of GAGs: dermatan sulfate (DS) and heparan sulfate (HS0S and HSNS). Samples that were high for two of the three GAGs were identified and screened a second time. Samples were also measured for iduronate-2-sulfatase and alfa-L-iduronidase activity. A total of 300 samples were above the established cutoff values for at least two of the three GAGs after the first screening. One sample was determined through clinical and genetic testing to be a true positive for MPS II. The false positive rate after the first GAG screening was 1.64%. A Cochran's formula test showed that the samples available for the second screening were representative samples (p = .0000601). False positive rate after second GAG screening, extrapolated from the representative sample was 0.4%. False positive rate after enzyme activity assay by fluorimetry for IDUA and IDS enzymes was 0.21% and 0.18%. A combination of GAG and enzyme assays provided no false positive and false negative samples. Two-tier screening involving a combination of enzyme activity and multiple GAGs should be considered the gold standard for the diagnosis of MPS patients.
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