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The Mucopolysaccharidoses

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Health Care for People with Intellectual and Developmental Disabilities across the Lifespan

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Abstract

The mucopolysaccharidoses represent a major subgroup of lysosomal storage diseases and are a type of inborn error of metabolism. These conditions cause abnormal accumulation of normally-produced macromolecules in involved tissues over time, thereby explaining the shared clinical features of progressive disability and co-morbidity among affected individuals. The signs and symptoms are systemic and dependent on the specific tissues that are involved and the underlying genetic defect. Some of these conditions affect the central nervous system and lead to neurodegenerative symptoms. While many of the mucopolysaccharidoses have been known for some time, until recently therapies for patients with these disorders were essentially limited to supportive and palliative approaches. As a result, patients and their caregivers had little option but to cope with an advancing disease state causing gradual disability with no options for substantial amelioration of symptoms. In the recent decades, new treatment options such as hematopoietic stem cell therapy and pharmacologic interventions have been developed for some of these conditions which have been demonstrated to reduce or prevent some aspects of the disease process. While not all the mucopolysaccharidoses currently have an available treatment, the recent advances suggest that there is a new era of hope for individuals with many of these conditions. Presently, various pre-clinical and clinical studies are underway that may offer novel or expanded avenues to future treatments for the mucopolysaccharidoses.

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Authors and Affiliations

  1. Department of Pediatrics, Children’s Hospital of Michigan, Wayne State University School of Medicine, 3901 Beaubien Street, Detroit, MI, 49201-2196, USA

    Robert Conway M.D.

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  1. Robert Conway M.D.
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Correspondence to Robert Conway M.D. .

Editor information

Editors and Affiliations

  1. Innovative Solutions for Disadvantage and Disability and Department of Pediatrics, Morehouse School of Medicine, Atlanta, GA, USA

    I. Leslie Rubin

  2. National Institute of Child Health and Human Development and Medical Services, Division for Developmental and Developmental Disabilities, Ministry of Social Affairs and Social Services, Jerusalem, Israel

    Joav Merrick

  3. Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Western Michigan University, Kalamazoo, MI, USA

    Donald E. Greydanus  & Dilip R. Patel  & 

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Conway, R. (2016). The Mucopolysaccharidoses. In: Rubin, I.L., Merrick, J., Greydanus, D.E., Patel, D.R. (eds) Health Care for People with Intellectual and Developmental Disabilities across the Lifespan. Springer, Cham. https://doi.org/10.1007/978-3-319-18096-0_56

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  • DOI: https://doi.org/10.1007/978-3-319-18096-0_56

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-18095-3

  • Online ISBN: 978-3-319-18096-0

  • eBook Packages: MedicineMedicine (R0)

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