Mucopolysaccharidoses

Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.

Also Known As:

Networked: 1610 relevant articles (50 outcomes, 101 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Gaucher Disease (Gaucher's Disease)
2.	Lysosomal Storage Diseases (Lysosomal Storage Disease)
3.	Mucopolysaccharidosis III (Sanfilippo Syndrome)
4.	Mucopolysaccharidosis II (Hunter Syndrome)
5.	Mucopolysaccharidosis IV (Morquio Syndrome)

Experts

1.	Tomatsu, Shunji: 67 articles (06/2022 - 07/2003)
2.	Giugliani, Roberto: 49 articles (01/2022 - 01/2004)
3.	Orii, Tadao: 39 articles (07/2020 - 07/2003)
4.	Suzuki, Yasuyuki: 29 articles (11/2021 - 04/2004)
5.	Yamaguchi, Seiji: 27 articles (08/2021 - 12/2003)
6.	Węgrzyn, Grzegorz: 26 articles (09/2022 - 12/2010)
7.	Montaño, Adriana M: 26 articles (01/2021 - 11/2005)
8.	Mason, Robert W: 24 articles (07/2020 - 09/2013)
9.	Harmatz, Paul: 22 articles (06/2022 - 02/2008)
10.	Jakóbkiewicz-Banecka, Joanna: 22 articles (01/2022 - 05/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mucopolysaccharidoses:

1.	GlycosaminoglycansIBA 01/01/1982 - "High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses." 01/01/2010 - "Only some of these products were found to be effective in inhibition of the synthesis of glycosaminoglycans (compounds whose degradation is severely impaired in mucopolysaccharidoses, including Sanfilippo disease) in cultured fibroblasts. " 02/01/1990 - "Two methods for analysis of urinary glycosaminoglycans (GAGs) have been modified and improved for efficient screening of mucopolysaccharidoses. " 01/01/2010 - "Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: preliminary results of an improved DMB-based procedure." 08/01/2019 - "This study was aimed to construct classification and regression tree (CART) model of glycosaminoglycans (GAGs) for the differential diagnosis of Mucopolysaccharidoses (MPS). "
2.	EnzymesIBA 01/01/2015 - "Whilst acute studies in mucopolysaccharidosis (MPS) type II mice revealed that intrathecally-delivered enzyme (into thoraco-lumbar CSF) accesses the brain, the impact of longer-term treatment of affected subjects via this route is unknown. " 01/01/1991 - "These studies stress the need for complete enzyme investigations of obligate carriers for mucopolysaccharidoses in order to prevent difficulties at prenatal analysis." 03/20/1982 - "It was not always possible to discriminate heterozygotes from normal controls by enzyme assay of leucocyte or fibroblast homogenates in this study of a large number of mucopolysaccharidoses Type II by means of a single hair root assay system." 10/03/2022 - "Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders involving GAG accumulation throughout the body caused by a deficiency of GAG-degrading enzymes. " 09/19/2022 - "There are eight clinically distinct types of mucopolysaccharidosis, some with various subtypes, based on which lysosomal enzyme is deficient and symptom severity. "
3.	Heparitin Sulfate (Heparan Sulfate)IBA 09/15/2015 - "Butanolysis derivatization: improved sensitivity in LC-MS/MS quantitation of heparan sulfate in urine from mucopolysaccharidosis patients." 10/01/2021 - "Competitive binding of extracellular accumulated heparan sulfate reduces lysosomal storage defects and triggers neuronal differentiation in a model of Mucopolysaccharidosis IIIB." 02/01/2016 - "A novel LC-MS/MS assay for heparan sulfate screening in the cerebrospinal fluid of mucopolysaccharidosis IIIA patients." 02/27/2015 - "Heparan sulfate saccharides modify focal adhesions: implication in mucopolysaccharidosis neuropathophysiology." 09/01/2014 - "Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses."
4.	Biomarkers (Surrogate Marker)IBA 02/15/2023 - "Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses." 11/23/2021 - "Bone Biomarkers in Mucopolysaccharidoses." 09/01/2021 - "Untargeted glycomic profiling revealed twenty biomarkers that could identify and subtype mucopolysaccharidoses. " 12/15/2015 - "Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI." 01/01/2014 - "Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI."
5.	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 01/01/2020 - "An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs." 01/01/2018 - "We have therefore developed an ex vivo haematopoietic stem cell gene therapy approach in a mouse model of mucopolysaccharidosis IIIB, using a high-titre lentiviral vector and the myeloid-specific CD11b promoter, driving the expression of NAGLU (LV.NAGLU). " 05/01/2013 - "A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB." 07/01/2010 - "Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery." 05/01/2010 - "Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)."
6.	dimethylmethylene blueIBA 07/01/2004 - "Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests." 01/01/2001 - "The diagnosis of a mucopolysaccharidosis (MPS) can be achieved by non-enzymatic screening methods, including two-dimensional electrophoresis (2-D EP), and the dimethylmethylene blue (DMB) method. " 01/01/2001 - "Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two dimensional electrophoresis." 01/01/1993 - "Pitfalls of screening for mucopolysaccharidoses by the dimethylmethylene blue test." 04/01/1991 - "In contrast, the quantitative dimethylmethylene blue test (Clin Chem 1989;35:1472-7) detected an increased glycosaminoglycan content in all urine samples from mucopolysaccharidosis patients and gave no false-positive results. "
7.	human GALNS proteinIBA 01/01/2017 - "Name of registry: Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome). " 02/01/2015 - "To report and discuss the multi-domain impact of elosulfase alfa, with focus on tertiary and composite endpoints, in the 24-week, randomized, double-blind, placebo-controlled phase 3 trial in patients with Morquio A syndrome (mucopolysaccharidosis IVA). " 08/01/2019 - "In May 2019, China National Medical Products Administration approved the marketing of an elosulfase alfa injection (brand name: Vimizim) from BioMarin Pharmaceutical for the treatment of patients with mucopolysaccharidosis (MPS) type IVA. " 12/01/2016 - "Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome)." 01/01/2016 - "Role of elosulfase alfa in mucopolysaccharidosis IVA."
8.	GenisteinIBA 02/01/2014 - "The objective of this study was to analyze the in vitro effect of different concentrations of genistein on DNA injury in mucopolysaccharidosis IVA patients. " 02/01/2014 - "In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients." 08/01/2013 - "High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system." 01/01/2021 - "The aim of this study was to evaluate the efficacy of high dose genistein aglycone in Sanfilippo syndrome (mucopolysaccharidosis type III). " 12/29/2018 - "Clinical trials with the use of genistein in treatment of patients suffering from Alzheimer's diseases and mucopolysaccharidosis type III are ongoing. "
9.	Iduronidase (alpha-L-Iduronidase)IBA 12/01/2004 - "Mutational analysis of the alpha-L-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations." 11/01/1998 - "The lysosomal storage disorder mucopolysaccharidoses I (MPS I) is caused by a deficiency in the production of alpha-L-iduronidase. " 07/01/1983 - "Five cats with feline alpha-L-iduronidase-deficient mucopolysaccharidosis were studied. " 10/01/1977 - "Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity." 01/01/1976 - "The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features."
10.	Keratan SulfateIBA 09/01/2013 - "Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels." 04/01/2004 - "Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA." 01/01/2004 - "Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate." 03/10/1975 - "[A new type of mucopolysaccharidosis with urinary elimination of keratan sulfate]." 09/01/2018 - "Animal studies show clearance of accumulated keratan sulfate from the body tissues in the treatment of systemic mucopolysaccharidosis by long-term enzyme replacement therapy. "

Therapies and Procedures

1.	Enzyme Replacement Therapy 12/01/2016 - "Hematopoietic stem cell transplants, alongside enzyme replacement therapy and good multi-disciplinary care, have dramatically improved the life expectancy in children with Mucopolysaccharidosis (MPS) I, with better objective and functional outcomes. " 01/01/2015 - "There is currently no effective treatment of mucopolysaccharidosis type III, though ongoing researches of gene, substrate reduction and intrathecal enzyme replacement therapies expect getting curative method to alter devasting damage of central nervous system in near future." 11/01/2017 - "Although enzyme replacement therapy (ERT) is an effective treatment for mucopolysaccharidosis (MPS) types I, II, IVA and VI, its effectiveness in children with central nervous system (CNS) disorders is said to be poor because the blood-brain barrier cannot be penetrated by ERT drugs. " 01/01/2006 - "New treatment modalities for the systemic manifestations of the mucopolysaccharidoses include bone marrow transplant and enzyme replacement therapy, and have resulted in an improved prognosis in many cases. " 04/01/2016 - "While enzyme replacement therapy (ERT) has been shown to improve endurance and joint mobility for patients with mucopolysaccharidoses (MPS) I, II, IVA and VI, the impact of ERT on cardiac abnormalities remains uncertain. "
2.	Therapeutics 01/01/2021 - "With the development of treatments, more and more mucopolysaccharidoses patients were treated by approved therapies, thereby getting prolonged life span and improved quality of life. " 09/01/2020 - "In 2017, an International MPS Consensus Panel published recommendations for best practice in the design and conduct of clinical studies investigating the effects of therapies on cognitive function and adaptive behavior in patients with neuronopathic mucopolysaccharidoses. " 01/14/2019 - "Obstacles to effective therapies for mucopolysaccharidoses (MPSs) determine the need for continuous studies in order to enhance therapeutic strategies. " 01/01/2017 - "The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. " 05/19/2023 - "Gene therapies for mucopolysaccharidoses."
3.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/2014 - "Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA." 06/01/1998 - "The purpose of the study was to provide longer follow-up of ocular findings in patients with mucopolysaccharidoses (MPS) after bone marrow transplantation (BMT). " 07/01/2001 - "Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation." 07/01/2000 - "Bone marrow transplantation may allow more patients with mucopolysaccharidoses to survive long enough to require neurosurgical treatment in the future. " 06/01/1998 - "Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. "
4.	Hematopoietic Stem Cell Transplantation 12/10/2023 - "To explore the long-term efficacy of allogeneic hematopoietic stem cell transplantation (alloHSCT) in patients with Mucopolysaccharidosis (MPS), which has rarely been reported in China. " 11/01/2016 - "We investigated the efficacy of allogeneic hematopoietic stem cell transplantation (alloHSCT) in pediatric patients with mucopolysaccharidosis (MPS). " 04/01/2018 - "The aims of this study were to analyze the maxillomandibular morphology of patients with mucopolysaccharidosis (MPS) type I, II, III, IVa and VI and to evaluate the craniofacial effect of hematopoietic stem cell transplantation (HCST) in MPS I. One hundred head magnetic resonance images were retrospectively analyzed from 41 MPS and 27 control individuals. " 12/10/2023 - "[Long-term outcome of hematopoietic stem cell transplantation in two children with Mucopolysaccharidosis]." 01/01/2022 - "The Outcome of Allogeneic Hematopoietic Stem Cell Transplantation From Different Donors in Recipients With Mucopolysaccharidosis."
5.	Cell Transplantation 06/01/2015 - "Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines." 01/01/2021 - "Mucopolysaccharidoses (MPS) are devastating inherited diseases treated with hematopoietic cell transplantation (HCT). " 05/01/2014 - "Tissue from epicardial coronary arteries from autopsies of four patients with non-Hurler mucopolysaccharidosis (attenuated type I, type IIIA, type IIIC, and type VI) who had died after hematopoietic cell transplantation (within 1 month in three cases; after 5 years in the fourth) was examined by light microscopy. " 01/01/2020 - "Mucopolysaccharidoses (MPSs) are multiorgan devastating diseases for which hematopoietic cell transplantation (HCT) and, to a lesser extent, enzyme replacement therapy have substantially altered the course of the disease. " 01/01/2021 - "Long-term effect of hematopoietic cell transplantation on systemic inflammation in patients with mucopolysaccharidoses."