Mucopolysaccharidoses: Diagnosis, Treatment, and Management, Volume 3

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 2022) | Viewed by 4066

Special Issue Editors


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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

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Guest Editor
1. Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1193, Japan
2. Nemours Children's Health, Wilmington, DE 19803, USA
3. Faculty of Arts and Sciences, University of Delaware, Newark, DE 19716, USA
4. Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19144, USA
Interests: skeletal dysplasia; inactive project newborn screening; targeting therapy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Mucopolysaccharidoses (MPSs) are a relatively frequent a group of inborn errors of metabolism, with an overall incidence estimated around 1 in 20,000–25,000 births. If the clinical signs and symptoms appear, the excessive excretion of urinary glycosaminoglycans (GAGs) seen in MPS patients provide a simple screening method with the identification of the specific enzyme deficiency. The development of therapeutic options for MPSs, including hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT), has modified the natural history of many MPS types. Despite 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 MPSs 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 MPSs 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 biomarkers.

In this Special Issue, we will summarize the diagnosis, treatment, and management of MPSs, and will evaluate available treatments such as ERT; HSCT; and future treatments including gene therapy, substrate reduction therapy, and chaperone 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 will provide an up-to-date overview of pathogenesis, diagnosis, biomarker, screening, and updated therapies and their impact in MPSs. It will comprehensively cover many areas in the field of MPSs, and appeals to a broad range of readers including physicians, scientists, students, pharmaceutical companies, and MPS communities.

Related Special Issues:

https://www.mdpi.com/journal/diagnostics/special_issues/MPS-joint

https://www.mdpi.com/journal/diagnostics/special_issues/MPS-joint_v2

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

Manuscript Submission Information

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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 (1 paper)

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7 pages, 1272 KiB  
Case Report
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome
by Liliana Fernández-Hernández, Miriam Erandi Reyna-Fabián, Miguel Angel Alcántara-Ortigoza, Carmen Aláez-Verson, Luis L. Flores-Lagunes, Karol Carrillo-Sánchez and Ariadna González-del Angel
Diagnostics 2022, 12(5), 1268; https://doi.org/10.3390/diagnostics12051268 - 19 May 2022
Cited by 1 | Viewed by 3552
Abstract
We present an unusual Mexican patient affected with mucopolysaccharidosis type IIIB (MPS IIIB; also called Sanfilippo B syndrome, MIM #252920) bearing clinical features that have not previously been described for MPS IIIB (growth arrest, hypogonadotropic hypogonadism, and congenital heart disease). Chromosomal microarray analysis [...] Read more.
We present an unusual Mexican patient affected with mucopolysaccharidosis type IIIB (MPS IIIB; also called Sanfilippo B syndrome, MIM #252920) bearing clinical features that have not previously been described for MPS IIIB (growth arrest, hypogonadotropic hypogonadism, and congenital heart disease). Chromosomal microarray analysis was useful in identifying runs of homozygosity at 17q11.1–q21.33 and supporting the diagnosis of an underlying autosomal recessive condition. Sanger sequencing of NAGLU (17q21.2, MIM*609701) allowed us to identify a pathogenic homozygous p.(Arg234Cys) genotype. This NAGLU allele could be related to that previously described in an Iberian MPS IIIB founder haplotype; results from the polymorphic marker D17S800 and rs2071046 led us to hypothesize that it may have been introduced to Mexico through the Spanish settlement. The analysis of a clinical exome sequencing ruled out other monogenic etiologies for the previously undescribed clinical MPS IIIB manifestations. Our findings contribute to further delineating the MPS IIIB phenotype and suggest possible phenotype–genotype correlations. Full article
(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management, Volume 3)
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