Abstract
Mucopolysaccharidoses (MPS) are a heterogeneous group of disorders that results in the absence or deficiency of lysosomal enzymes, leading to an inappropriate storage of glycosaminoglycans (GAGs) in various tissues of the body such as bones, cartilage, heart valves, arteries, upper airways, cornea, teeth, liver and nervous system. Clinical manifestations can become progressively exacerbated with age and affect their quality of life. Developments in advanced supportive treatment options such as enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT) may have improved patients' life span. Adult MPS patients require specialist clinical surveillance long-term. In many cases, in addition to the MPS-related health problems, they may develop age-related complications. Considering the complexity of their clinical manifestations and lack of guidelines on the management of adult MPS disorders, multispecialty and multidisciplinary teams' care is essential to diagnose and treat health problems that are likely to be encountered. This review presents non-cardiac clinical manifestations, their pathophysiology, management and long-term outcomes in adult MPS patients.
Highlights
Mucopolysaccharidoses (MPS) are a heterogeneous group of disorders that results in the absence or deficiency of lysosomal enzymes, leading to an inappropriate storage of glycosaminoglycans (GAGs) in various tissues of the body such as bones, cartilage, heart valves, arteries, upper airways, cornea, teeth, liver, and nervous system [1] (Table 1).This results in alterations in cellular metabolism, which in turn leads to a range of manifestations that become progressively exacerbated with age
This review presents a detailed account of common non-cardiac clinical manifestations, their pathophysiology, management and long-term outcomes in adult MPS patients
Diagnostic and therapeutic developments lead to improved longevity in adult MPS patients
Summary
Mucopolysaccharidoses (MPS) are a heterogeneous group of disorders (type I, II, III, IV, VI, and VII) that results in the absence or deficiency of lysosomal enzymes, leading to an inappropriate storage of glycosaminoglycans (GAGs) in various tissues of the body such as bones, cartilage, heart valves, arteries, upper airways, cornea, teeth, liver, and nervous system [1] (Table 1).This results in alterations in cellular metabolism, which in turn leads to a range of manifestations that become progressively exacerbated with age. Mucopolysaccharidoses (MPS) are a heterogeneous group of disorders (type I, II, III, IV, VI, and VII) that results in the absence or deficiency of lysosomal enzymes, leading to an inappropriate storage of glycosaminoglycans (GAGs) in various tissues of the body such as bones, cartilage, heart valves, arteries, upper airways, cornea, teeth, liver, and nervous system [1] (Table 1). The MPS can affect multiple organ systems, affecting cognitive function and eventually resulting in severe debilitating and life limiting morbidity and premature death [5]. MPS I Hurler (H) MPS I Hurler-Scheie (H-S) MPS I Scheie (S) 0.11–1.67; AR
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
