ArticleJournal of medical genetics2022
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.
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Who cites it
49 citing papers in PubMed, 2 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.Human molecular genetics · 2025Pooled it
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II.Orphanet journal of rare diseases · 2024Trial
- [Anterior segment changes in mucopolysaccharidoses].Die Ophthalmologie · 2026Article
- Structural dynamics and stability analysis of a novel ARSK variant confirms its role in MPS type X pathogenesis.Glycoconjugate journal · 2026Article
- Advances in Therapies for Mucopolysaccharidoses.Current issues in molecular biology · 2026Review
- Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis.Molecular genetics and metabolism reports · 2026Review
- AMCP Market Insights: The role of managed care in improving patient care in mucopolysaccharidoses.Journal of managed care & specialty pharmacy · 2026Article
- Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.Biomolecules · 2025Review
- Article
- Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.Italian journal of pediatrics · 2025Article
- The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023.Diagnostics (Basel, Switzerland) · 2025Article
- Mucopolysaccharidoses types I and IIIA: Diagnosis and identification of novel polymorphisms associated with common mutations in Moroccan patients.Molecular genetics and metabolism reports · 2025Article
- Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities.Orphanet journal of rare diseases · 2025Article
- Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency.Communications medicine · 2025Article
- College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance.Genetics in medicine open · 2025Article
- Development of a novel tool for individual treatment trials in mucopolysaccharidosis.Journal of inherited metabolic disease · 2025Article
- Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease.Brain sciences · 2024Review
- Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.Orphanet journal of rare diseases · 2024Review
- Intracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination.Heliyon · 2024Article
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMucopolysaccharidoses (MPS) are monogenic metabolic disorders that significantly affect the skeleton. Eleven enzyme defects in the lysosomal degradation of glycosaminoglycans (GAGs) have been assigned to the known MPS subtypes (I-IX). Arylsulfatase K (ARSK) is a recently characterised lysosomal hydrolase involved in GAG degradation that removes the 2-O-sulfate group from 2-sulfoglucuronate. Knockout of
methodsIn this study, we report four affected individuals of two unrelated consanguineous families with homozygous variants c.250C>T, p.(Arg84Cys) and c.560T>A, p.(Leu187Ter) in
resultsThe phenotypes of the affected individuals include MPS features, such as short stature, coarse facial features and dysostosis multiplex. Reverse phenotyping in two of the four individuals revealed additional cardiac and ophthalmological abnormalities. Mild elevation of dermatan sulfate was detected in the two subjects investigated by LC-MS/MS. Human HT1080 cells expressing the ARSK-Leu187Ter construct exhibited absent protein levels by western blot, and cells with the ARSK-Arg84Cys construct showed markedly reduced enzyme activity in an ARSK-specific enzymatic assay against 2-O-sulfoglucuronate-containing disaccharides as analysed by C18-reversed-phase chromatography followed by MS.
conclusionOur work provides a detailed clinical and molecular characterisation of a novel subtype of mucopolysaccharidosis, which we suggest to designate subtype X.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.