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Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders

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Inborn Metabolic Diseases

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Zusammenfassung

Genetic defects in enzymes that are involved in the lysosomal degradation of the mucopolysaccharides (glycosaminoglycans, GAGs) and the oligosaccharide chains of glycoproteins lead to chronic and invariably progressive disorders. Although these disorders share many clinical features, the presentation can be highly variable and the spectrum of phenotypic severity is extremely broad. Signs and symptoms include bone dysplasia (dysostosis multiplex), hepatosplenomegaly, neurological abnormalities, cardiac disease and, in some of the disorders, developmental regression. Life expectancy is generally reduced at the severe end of the clinical spectrum. Mucopolysaccharidoses (MPS) and oligosaccharidoses are transmitted in an autosomal recessive manner, except for the X-linked MPS II (Hunter syndrome). Diagnosis of these disorders is initially by detecting increased concentrations of (partially degraded) GAGs or oligosaccharides in urine, confirmed by specific enzyme assays in serum, leukocytes or skin fibroblasts followed by mutational analysis. Over recent years important advances have been made in the disease modifying treatment of a number of the mucopolysaccharidosis, including enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) and many more treatment options, including gene therapy, are currently under study. While these treatments may result in improvement of a number of clinically relevant symptoms there is generally significant residual disease, especially involving the musculoskeletal system. Prenatal diagnosis is possible for all the MPSs and oligosaccharidoses.

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Authors and Affiliations

  1. Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS, Foundation Trust St Marys Hospital, Oxford Road, M13 9WL, Manchester, UK

    Simon Jones

  2. Department of Pediatrics, University of Amsterdam, Academic Medical Centre, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands

    Frits A. Wijburg

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  1. Simon Jones
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Correspondence to Simon Jones or Frits A. Wijburg .

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Editors and Affiliations

  1. Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK

    John Walter

  4. Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

    John Walter

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Jones, S., Wijburg, F.A. (2016). Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_39

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