{"doi":"10.3390/biom11020189","title":"Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement","abstract":"<jats:p>Mucopolysaccharidosis type I (MPS I) is a lysosomal disease, caused by a deficiency of the enzyme alpha-L-iduronidase (IDUA). IDUA catalyzes the degradation of the glycosaminoglycans dermatan and heparan sulfate (DS and HS, respectively). Lack of the enzyme leads to pathologic accumulation of undegraded HS and DS with subsequent disease manifestations in multiple organs. The disease can be divided into severe (Hurler syndrome) and attenuated (Hurler-Scheie, Scheie) forms. Currently approved treatments consist of enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). Patients with attenuated disease are often treated with ERT alone, while the recommended therapy for patients with Hurler syndrome consists of HSCT. While these treatments significantly improve disease manifestations and prolong life, a considerable burden of disease remains. Notably, treatment can partially prevent, but not significantly improve, clinical manifestations, necessitating early diagnosis of disease and commencement of treatment. This review discusses these standard therapies and their impact on common disease manifestations in patients with MPS I. Where relevant, results of animal models of MPS I will be included. Finally, we highlight alternative and emerging treatments for the most common disease manifestations.</jats:p>","journal":"Biomolecules","year":2021,"id":45839,"datarank":2.5634015605445395,"base_score":4.5217885770490405,"endowment":4.5217885770490405,"self_citation_contribution":0.6782682865573562,"citation_network_contribution":1.8851332739871836,"self_endowment_contribution":0.6782682865573562,"citer_contribution":1.8851332739871836,"corpus_percentile":null,"corpus_rank":null,"citation_count":91,"citer_count":86,"citers_with_citation_signal":55,"citers_with_endowment":55,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":213481,"name":"Jacob Wesley","orcid":null,"position":1,"is_corresponding":false},{"id":213482,"name":"Troy C. Lund","orcid":null,"position":2,"is_corresponding":false},{"id":213483,"name":"Paul J. Orchard","orcid":"0000-0001-9426-1292","position":3,"is_corresponding":false},{"id":213484,"name":"Lynda E. Polgreen","orcid":null,"position":4,"is_corresponding":false},{"id":213485,"name":"Julie B. Eisengart","orcid":"0000-0001-5340-017X","position":5,"is_corresponding":false},{"id":213486,"name":"Linda K. McLoon","orcid":null,"position":6,"is_corresponding":false},{"id":213487,"name":"Sebahattin Cureoglu","orcid":null,"position":7,"is_corresponding":false},{"id":213488,"name":"Patricia Schachern","orcid":null,"position":8,"is_corresponding":false},{"id":213489,"name":"R. Scott McIvor","orcid":null,"position":9,"is_corresponding":false},{"id":213480,"name":"Christiane S. Hampe","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":4.5217885770490405,"endowment":4.5217885770490405,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"33572941","pmcid":"PMC7911293","openalex_id":"https://openalex.org/W3128228216","authors":[],"funders":[],"total_grants":0,"fwci":6.4308,"citation_percentile":0.97653714,"influential_citations":3,"citation_trend":[{"year":2021,"count":7},{"year":2022,"count":11},{"year":2023,"count":13},{"year":2024,"count":22},{"year":2025,"count":25},{"year":2026,"count":13}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.mdpi.com/2218-273X/11/2/189/pdf?version=1612175270","host_type":"journal"},{"url":"https://www.mdpi.com/2218-273X/11/2/189/pdf?version=1612175270","host_type":"GOLD"},{"url":"https://www.mdpi.com/2218-273X/11/2/189/pdf?version=1612175270","host_type":"publisher"},{"url":"https://www.mdpi.com/2218-273X/11/2/189/pdf","host_type":"publisher"},{"url":"https://doi.org/10.3390/biom11020189","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/33572941","host_type":"repository"},{"url":"https://doaj.org/article/4f5fba414a974ed4a48d420d272de94a","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7911293","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC7911293","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC7911293?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Lysosomal Storage Disorders Research","Trypanosoma species research and implications","Biomedical Research and Pathophysiology","Medicine","Animals","Bone Diseases","Cognition Disorders","Enzyme Replacement Therapy","Female","Glycosaminoglycans","Hearing Loss","Heart Diseases","Hematopoietic Stem Cell Transplantation","Humans","Iduronidase","Male","Mucopolysaccharidosis I","Range of Motion, Articular","Stem Cell Transplantation","Transplantation, Homologous"],"mesh_terms":["Animals","Bone Diseases","Cognition Disorders","Female","Glycosaminoglycans","Heart Diseases","Humans","Iduronidase","Mucopolysaccharidosis I","Male","Transplantation, Homologous","Range of Motion, Articular","Hematopoietic Stem Cell Transplantation","Stem Cell Transplantation","Hearing Loss","Enzyme Replacement Therapy"],"keywords":["Hurler syndrome","Mucopolysaccharidosis type I","Enzyme replacement therapy","Mucopolysaccharidosis I","Medicine","Mucopolysaccharidosis","Disease","Lysosomal storage disease","Hunter syndrome","Hematopoietic stem cell transplantation","Substrate reduction therapy","Mucopolysaccharidosis type II","Dermatan sulfate","Transplantation","Internal medicine","Heparan sulfate","Animal Models","Experimental Therapies","Hematopoietic Stem Cell Transplantations"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"nct"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-04T07:44:17.775167Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}