Submit to Diagnostics Review for Diagnostics Propose a Special Issue

Journal Browser

Mucopolysaccharidoses: Diagnosis, Treatment, and Management 2.0

Special Issue Editors
Special Issue Information
Published Papers

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 July 2021) | Viewed by 28083

Share This Special Issue

Special Issue Editors

Prof. Dr. Shunji Tomatsu

E-Mail Website
Guest Editor

Skeletal Dysplasia Lab Nemours Biomedical Research Nemours/Alfred I. du Pont Hospital for Children, 1600 Rockland Road., Wilmington, DE 19803, USA
Interests: lysosomal storage disease; mucopolysaccharidoses; newborn screening; bone targeting
Special Issues, Collections and Topics in MDPI journals

Prof. Dr. Roberto Giugliani

E-Mail Website
Guest Editor

1. Department of Genetics UFRGS, Medical Genetics Service, HCPA, DASA and Casa dos Raros, Porto Alegre 91501970, Brazil
2. Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil
Interests: inborn errors of metabolism, particularly lysosomal disorders
Special Issues, Collections and Topics in MDPI journals

Prof. Dr. Grzegorz Wegrzyn

E-Mail Website
Guest Editor

Department of Molecular Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland
Interests: regulation of DNA replication; control of gene expression; oxidative stress in bacterial virulence; molecular mechanisms of mucopolysaccharidoses; development of novel therapeutic options
Special Issues, Collections and Topics in MDPI journals

Prof. Dr. Brian Bigger

E-Mail Website
Guest Editor

Division of Cell Matrix Biology and Regenerative Medicine, University of Manchester, Manchester M13 9PT, UK
Interests: mucopolysaccharidosis
Special Issues, Collections and Topics in MDPI journals

Dr. Julia B. Hennermann

E-Mail Website
Guest Editor

Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Villa Metabolica, Langenbeckstr. 1, 55131 Mainz, Germany
Interests: mucopolysaccharidoses
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Mucopolysaccharidoses (MPS) are relatively frequent as a group among inborn errors of metabolism, with an overall incidence estimated around 1 of 20,000–25,000 births. If the clinical signs and symptoms appear, the excessive excretion of urinary glycosaminoglycans (GAGs) seen in MPS patients will provide a simple screening method with the identification of the specific enzyme deficiency. The development of therapeutic options for MPS, including hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT), has modified the natural history of many MPS types. In spite of the improvement in some tissues and organs, significant challenges remain unsolved, including blood–brain barrier, brain and avascular cartilage, heart valves, and cornea. Newer approaches, such as intrathecal ERT, ERT with fusion proteins to cross the blood–brain barrier, gene therapy, substrate reduction therapy, chaperone therapy, and combined strategies, may provide a better outcome for MPS in the near future.

Therapies should start at a very early stage prior to irreversible bone lesion, and damage due to the severity of CNS involvement and skeletal dysplasia is associated with level of activity during daily life. As early diagnosis and early treatment are imperative to improve therapeutic efficacy, the inclusion of MPS in newborn screening programs should reduce the morbidity associated with MPS diseases. Additionally, we will provide insights into primary storage materials on GAGs (“GAGnomics”), the measurement of GAGs, the pathogenesis pathway with the accumulation of GAGs, and GAGs’ role as a biomarker.

In this Special Issue, we will summarize diagnosis, treatment, and management of MPS and will evaluate available treatments such as ERT; HSCT; and future treatments including gene therapy, substrate reduction therapy, and chaperon therapy, and will describe their advantages and disadvantages. We will also assess the current clinical endpoints and biomarkers used in clinical trials.

Overall, this Special Issue illustrates an up-to-date overview of pathogenesis, diagnosis, biomarker, screening, and updated therapies and their impact in MPS. It comprehensively covers many areas in the MPS field and appeals to a broad range of readers including physicians, scientists, students, pharmaceutical companies, and MPS communities.

You may choose our Joint Special Issue in IJMS.

Related Special Issues:

"Mucopolysaccharidoses: Diagnosis, Treatment, and Management" in IJMS (25 Articles)

Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients

High-Throughput Liquid Chromatography–Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II

Validation of Liquid Chromatography Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses

Cathepsin B-associated Activation of Amyloidogenic Pathway in Murine Mucopolysaccharidosis Type I Brain Cortex

Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)

Autophagy in the Central Nervous System and Effects of Chloroquine in Mucopolysaccharidosis Type II Mice

Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies

Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems

Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model

Lower Exposure to Busulfan Allows for Stable Engraftment of Donor Hematopoietic Stem Cells in Children with Mucopolysaccharidosis Type I: A Case Report of Four Patients

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation

Evading the AAV Immune Response in Mucopolysaccharidoses

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification

Pathogenesis of Mucopolysaccharidoses, an Update

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

Targeting Macromolecules to CNS and Other Hard-to-Treat Organs Using Lectin-Mediated Delivery

Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses

Mucopolysaccharidosis-Plus Syndrome

Genome Editing for Mucopolysaccharidoses

Novel Enzyme Replacement Therapies for Neuropathic Mucopolysaccharidoses

Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses

"Mucopolysaccharidoses: Diagnosis, Treatment, and Management" in Diagnostics (20 Articles)

Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature an anthropometric study of body characteristics and stature

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses

Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI

Cardiac Evaluation by Two-dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses

Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II

Growth Plate Pathology in the Mucopolysaccharidosis Type VI Rat Model—An Experimental and Computational Approach

Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysacharidoses by UPLC-MS/MS

Laryngeal, Tracheal, and Bronchial Disease in the Mucopolysaccharidoses: Endoscopic Study

Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience

An At-risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

Long-term follow up post- Hematopoietic Stem Cell Transplantation in a Japanese patient with Mucopolysaccharidosis Type VII

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI – Proof of Principle on its Pathogenicity

Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings

Emerging Approaches for Fluorescence Based Newborn Screening of Mucopolysaccharidoses

Mucopolysaccharidosis type I

Diagnosis of Mucopolysaccharidoses

Prof. Dr. Shunji Tomatsu
Prof. Dr. Roberto Giugliani
Prof. Dr. Grzegorz Wegrzyn
Prof. Dr. Brian Bigger
Dr. Julia B. Hennermann
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers (8 papers)

Download All Papers

Research

Jump to: Review

17 pages, 3214 KiB

Open AccessArticle

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis

by Chih-Kuang Chuang, Chung-Lin Lee, Ru-Yi Tu, Yun-Ting Lo, Fran Sisca, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin and Shuan-Pei Lin

Diagnostics 2021, 11(9), 1583; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11091583 - 31 Aug 2021

Cited by 10 | Viewed by 3132

Abstract

Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) caused by an inherited gene defect. MPS patients can remain undetected unless the initial signs or symptoms have been identified. Newborn screening (NBS) programs for MPSs have been implemented in Taiwan since 2015, and more than 48.5% of confirmed cases of MPS have since been referred from these NBS programs. The purpose of this study was to report the current status of NBS for MPSs in Taiwan and update the gold standard criteria required to make a confirmative diagnosis of MPS, which requires the presence of the following three laboratory findings: (1) elevation of individual urinary glycosaminoglycan (GAG)-derived disaccharides detected by MS/MS-based assay; (2) deficient activity of a particular leukocyte enzyme by fluorometric assay; and (3) verification of heterogeneous or homogeneous variants by Sanger sequencing or next generation sequencing. Up to 30 April 2021, 599,962 newborn babies have been screened through the NBS programs for MPS type I, II, VI, and IVA, and a total of 255 infants have been referred to MacKay Memorial Hospital for a confirmatory diagnosis. Of these infants, four cases were confirmed to have MPS I, nine cases MPS II, and three cases MPS IVA, with prevalence rates of 0.67, 2.92, and 4.13 per 100,000 live births, respectively. Intensive long-term regular physical and laboratory examinations for asymptomatic infants with confirmed MPS or with highly suspected MPS can enhance the ability to administer ERT in a timely fashion. Full article

(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management 2.0)

► Show Figures

Figure 1

17 pages, 1795 KiB

Open AccessArticle

Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders

by Paige C. Amendum, Shaukat Khan, Seiji Yamaguchi, Hironori Kobayashi, Yasuhiko Ago, Yasuyuki Suzuki, Betul Celik, Estera Rintz, Jobayer Hossain, Wendi Xiao and Shunji Tomatsu

Diagnostics 2021, 11(9), 1563; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11091563 - 28 Aug 2021

Cited by 5 | Viewed by 2371

Abstract

Glycosaminoglycans (GAGs) are present in proteoglycans, which play critical physiological roles in various tissues. They are known to be elevated in mucopolysaccharidoses (MPS), a group of rare inherited metabolic diseases in which the lysosomal enzyme required to break down one or more GAG is deficient. In a previous study, we found elevation of GAGs in a subset of patients without MPS. In the current study, we aim to investigate serum GAG levels in patients with conditions beyond MPS. In our investigated samples, the largest group of patients had a clinical diagnosis of viral or non-viral encephalopathy. Clinical diagnoses and conditions also included epilepsy, fatty acid metabolism disorders, respiratory and renal disorders, liver disorders, hypoglycemia, developmental disorders, hyperCKemia, myopathy, acidosis, and vomiting disorders. While there was no conclusive evidence across all ages for any disease, serum GAG levels were elevated in patients with encephalopathy and some patients with other conditions. These preliminary findings suggest that serum GAGs are potential biomarkers in MPS and other disorders. In conclusion, we propose that GAGs elevated in blood can be used as biomarkers in the diagnosis and prognosis of various diseases in childhood; however, further designed experiments with larger sample sizes are required. Full article

(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management 2.0)

► Show Figures

Figure 1

7 pages, 234 KiB

Open AccessArticle

Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV)

by Jose J. Salazar-Torres, Chris Church, Thomas Shields, M. Wade Shrader, Lydia Fisher, William G. Mackenzie and W. G. Stuart Mackenzie

Diagnostics 2021, 11(8), 1350; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11081350 - 27 Jul 2021

Cited by 1 | Viewed by 1652

Abstract

Morquio syndrome (mucopolysaccharidosis IV/MPS IV) is a genetic disorder leading to skeletal abnormalities and gait deviations. Research on the gait patterns and lower extremity physical characteristics associated with skeletal dysplasia in children with MPS IV is currently limited. This research aimed to provide baseline gait patterns and lower limb skeletal alignment of children with MPS IV utilizing three-dimensional instrumented gait analysis. This Institutional Review Board-approved retrospective study evaluates the kinematics of the lower extremities of children with MPS IV during gait, comparing them with an age-matched group of typically developing children. Thirty-three children with MPS IV were included (8.6 ± 4.0 years old). Children with MPS IV walk with increased anterior pelvic tilt, knee valgus, knee flexion, external tibial torsion, and reduced walking speed and stride length (p < 0.001). Multiplanar abnormal alignment results in abnormal knee moments (p < 0.001). Limited correlations exist (r = 0.69–0.28) between dynamic three-dimensional measurements of knee varus/valgus and rotational alignment and traditional static two-dimensional measures (physical examination or radiographs) suggesting the possibility of knee instability during gait and the benefits of dynamic assessment. Full article

(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management 2.0)

13 pages, 1777 KiB

Open AccessArticle

Automated Assessment of Thoracic-Abdominal Asynchrony in Patients with Morquio Syndrome

by Madhavi V. Ratnagiri, Yan Zhu, Tariq Rahman, Mary Theroux, Shunji Tomatsu and Thomas H. Shaffer

Diagnostics 2021, 11(5), 880; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11050880 - 15 May 2021

Cited by 1 | Viewed by 1685

Abstract

Morquio syndrome is a rare disease caused by a disorder in the storage of mucopolysaccharides that affects multiple organs, including musculoskeletal, respiratory, cardiovascular, and digestive systems. Respiratory failure is one of the leading causes of mortality in Morquio patients; thus, respiratory function testing is vital to the management of the disease. An automated respiratory assessment methodology using the pneuRIP device and a machine-learning algorithm was developed. pneuRIP is a noninvasive approach that uses differences between thoracic and abdominal movements (thoracic-abdominal asynchrony) during respiration to assess respiratory status. The technique was evaluated on 17 patients with Morquio (9 females and 8 males) between the ages of 2 and 57 years. The results of the automated technique agreed with the clinical assessment in 16 out of the 17 patients. It was found that the inverse cumulative percentage representation of the time delay between the thorax and abdomen was the most critical variable for accurate evaluation. It was demonstrated that the technique could be successfully used on patients with Morquio who have difficulty breathing with 100% compliance. This technique is highly accurate, portable, noninvasive, and easy to administer, making it suitable for a variety of settings, such as outpatient clinics, at home, and emergency rooms. Full article

(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management 2.0)

► Show Figures

Figure 1

12 pages, 1813 KiB

Open AccessArticle

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy

by Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang and Shuan-Pei Lin

Diagnostics 2021, 11(1), 16; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11010016 - 23 Dec 2020

Cited by 4 | Viewed by 2313

Abstract

Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy. Only a few studies have focused on aortic root dilatation and the long-term effects of enzyme replacement therapy (ERT) in these patients. Methods: We reviewed echocardiograms of 125 Taiwanese MPS patients (age range, 0.1 to 19.1 years; 11 with MPS I, 49 with MPS II, 25 with MPS III, 29 with MPS IVA, and 11 with MPS VI). The aortic root diameter was measured at the sinus of Valsalva. Results: Aortic root dilatation (z score >2) was observed in 47% of the MPS patients, including 66% of MPS IV, 51% of MPS II, 45% of MPS VI, 28% of MPS III, and 27% of MPS I patients. The mean aortic root diameter z score was 2.14 (n = 125). The patients with MPS IV had the most severe aortic root dilatation with a mean aortic root diameter z score of 3.03, followed by MPS II (2.12), MPS VI (2.06), MPS III (1.68), and MPS I (1.03). The aortic root diameter z score was positively correlated with increasing age (n = 125, p < 0.01). For the patients with MPS II, III, and IV, aortic root diameter z score was also positively correlated with increasing age (p < 0.01). For 16 patients who had received ERT and had follow-up echocardiographic data (range 2.0–16.2 years), the mean aortic root diameter z score change was −0.46 compared to baseline (baseline 2.49 versus follow-up 2.03, p = 0.490). Conclusions: Aortic root dilatation was common in the patients with all types of MPS, with the most severe aortic root dilatation observed in those with MPS IV. The severity of aortic root dilatation worsened with increasing age, reinforcing the concept of the progressive nature of this disease. ERT for MPS appears to stabilize the progression of aortic root dilatation. Full article

(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management 2.0)

► Show Figures

Figure 1

14 pages, 2073 KiB

Open AccessArticle

Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans

by Cheng-Yung Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Po-Hsiang Zhang, Ru-Yi Tu, Shuan-Pei Lin and Huai-Jen Tsai

Diagnostics 2020, 10(10), 854; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics10100854 - 21 Oct 2020

Cited by 4 | Viewed by 2221

Abstract

Mucopolysaccharidosis type II (MPS II) is an X-linked disorder resulting from a deficiency in iduronate 2-sulfatase (IDS), which is reported to be caused by gene mutations in the iduronate 2-sulfatase (IDS) gene. Many IDS mutation sites have not yet had their causal relationship with MPS II characterized. We employed a gain-of-function strategy whereby we microinjected different mutated zebrafish ids (z-ids) mRNAs corresponded to human IDS gene into zebrafish embryos, and then measured their total IDS enzymatic activity and observed the occurrence of defective phenotypes during embryonic development. We examined three known mutation sites for human IDS genes (h-IDS) associated with MPS II symptoms, including h-IDS-P86L, -S333L and -R468W, which corresponded to z-ids-P80L, -S327L and -R454W. When these three mutated z-ids mRNAs were overexpressed in zebrafish embryos, the IDS enzymatic activity of the total proteins extracted from the injected embryos was not increased compared with the endogenous IDS of the untreated embryos, which suggests that the IDS enzymatic activity of these three mutated z-ids was totally lost, as expected. Additionally, we observed defective phenotypes in these injected embryos, resulting from the failed IDS enzyme breakdown, which, in turn, has a dominant negative effect on the endogenous wild-type IDS function. These phenotypes were similar to the clinical symptoms observed in MPS II pathogenesis. We further studied six uncharacterized IDS mutation sites as identified by the Taiwanese MPS newborn screening programs. We propose a novel IDS enzyme activity assay combined with phenotypic observation in zebrafish embryos, as an alternative platform for quickly providing a valuable index for preliminarily assessment of any identified IDS point mutation gene that has not yet been characterized, in the context of its role in MPS II development. Full article

(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management 2.0)

► Show Figures

Figure 1

Review

Jump to: Research

37 pages, 3340 KiB

Open AccessReview

Epidemiology of Mucopolysaccharidoses Update

by Betul Celik, Saori C. Tomatsu, Shunji Tomatsu and Shaukat A. Khan

Diagnostics 2021, 11(2), 273; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11020273 - 10 Feb 2021

Cited by 49 | Viewed by 7018

Abstract

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a lysosomal enzyme deficiency or malfunction, which leads to the accumulation of glycosaminoglycans in tissues and organs. If not treated at an early stage, patients have various health problems, affecting their quality of life and life-span. Two therapeutic options for MPS are widely used in practice: enzyme replacement therapy and hematopoietic stem cell transplantation. However, early diagnosis of MPS is crucial, as treatment may be too late to reverse or ameliorate the disease progress. It has been noted that the prevalence of MPS and each subtype varies based on geographic regions and/or ethnic background. Each type of MPS is caused by a wide range of the mutational spectrum, mainly missense mutations. Some mutations were derived from the common founder effect. In the previous study, Khan et al. 2018 have reported the epidemiology of MPS from 22 countries and 16 regions. In this study, we aimed to update the prevalence of MPS across the world. We have collected and investigated 189 publications related to the prevalence of MPS via PubMed as of December 2020. In total, data from 33 countries and 23 regions were compiled and analyzed. Saudi Arabia provided the highest frequency of overall MPS because of regional or consanguineous marriages (or founder effect), followed by Portugal, Brazil, the Netherlands, and Australia. The newborn screening is an efficient and early diagnosis for MPS. MPS I has been approved for newborn screening in the United States. After the newborn screening of MPS I, the frequency of MPS I increased, compared with the past incidence rates. Overall, we conclude that the current identification methods are not enough to recognize all MPS patients, leading to an inaccurate incidence and status. Differences in ethnic background and/or founder effects impact on the frequency of MPS, which affects the prevalence of MPS. Two-tier newborn screening has accelerated early recognition of MPS I, providing an accurate incidence of patients. Full article

(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management 2.0)

► Show Figures

Figure 1

18 pages, 714 KiB

Open AccessReview

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

by Jeremy Wolfberg, Keerthana Chintalapati, Shunji Tomatsu and Kyoko Nagao

Diagnostics 2020, 10(8), 554; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics10080554 - 04 Aug 2020

Cited by 12 | Viewed by 6383

Abstract

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans. Hearing loss is a common clinical presentation in MPS. This paper reviews the literature on hearing loss for each of the seven recognized subtypes of MPS. Hearing loss was found to be common in MPS I, II, III, IVA, VI, and VII, and absent from MPS IVB and MPS IX. MPS VI presents primarily with conductive hearing loss, while the other subtypes (MPS I, MPS II, MPS III, MPS IVA, and MPS VII) can present with any type of hearing loss (conductive, sensorineural, or mixed hearing loss). The sensorineural component develops as the disease progresses, but there is no consensus on the etiology of the sensorineural component. Enzyme replacement therapy (ERT) is the most common therapy utilized for MPS, but the effects of ERT on hearing function have been inconclusive. This review highlights a need for more comprehensive and multidisciplinary research on hearing function that includes behavioral testing, objective testing, and temporal bone imaging. This information would allow for better understanding of the progression and etiology of hearing loss. Owing to the prevalence of hearing loss in MPS, early diagnosis of hearing loss and annual comprehensive audiological evaluations are recommended. Full article

(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management 2.0)

► Show Figures

Figure 1

Journal Menu

Journal Browser

Mucopolysaccharidoses: Diagnosis, Treatment, and Management 2.0

Share This Special Issue

Special Issue Editors

Special Issue Information

Published Papers (8 papers)

Research

Review

Further Information

Guidelines

MDPI Initiatives

Follow MDPI