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Oligosaccharidoses and Sialic Acid Disorders

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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

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Abstract

Oligosaccharidosis comprises a group of disorders which show glycoprotein excretion in urine and diminished activity of lysosomal enzymes that are involved in the degradation of sugar side chains. Among those are glycosylasparaginase deficiency (aspartylglucosaminuria), α-l-fucosidase deficiency (fucosidosis), α- and β-mannosidase deficiency (α- and β-mannosidosis), α-N-acetylgalactosaminidase deficiency (Schindler and Kanzaki disease), and neuraminidase deficiency (sialidosis). In contrast to the latter, where degradation of sialic acid containing glycosides is impaired, Salla disease results from a defect in sialin, a membrane transporter protein. Consequently, sialic acid is stored in the lysosomes. The diseases are rare and present a wide phenotypic spectrum. Detection of oligosaccharides in urine and enzyme activity measurements in leukocytes or fibroblasts is usually diagnostic. Free sialic acid has to be assessed by HPLC. For final confirmation, a molecular genetic test should be carried out. To date mainly palliative therapies can be provided.

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Authors and Affiliations

  1. Metabolic Laboratory, Department of Pediatrics University Medical Center, Institute of Clinical Chemistry, Martinistr 52, 20246, Hamburg, Germany

    Zoltan Lukacs

  2. Villa Metabolica, Universitäts-Kinderklinik, Mainz Langenbeckstr. 2, 55131, Mainz, Germany

    Michael Beck

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  1. Zoltan Lukacs
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  2. Michael Beck
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Correspondence to Zoltan Lukacs .

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Editors and Affiliations

  1. Department of General Pediatrics, University Children's Hospital, Division of Inborn Metabolic Diseases, Heidelberg, Germany

    Nenad Blau

  2. Laboratory Genetic Metabolic Diseases, University of Amsterdam Academic Medical Centre, Amsterdam, The Netherlands

    Marinus Duran

  3. Section of Clinical Pharmacology, Washington State University, Spokane, Washington, USA

    K Michael Gibson

  4. Division of Metabolism, Department of Pediatric Medicine, Bambino Gesù Children’s Research Hospital, Rome, Italy

    Carlo Dionisi Vici

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Lukacs, Z., Beck, M. (2014). Oligosaccharidoses and Sialic Acid Disorders. In: Blau, N., Duran, M., Gibson, K., Dionisi Vici, C. (eds) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-40337-8_26

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  • DOI: https://doi.org/10.1007/978-3-642-40337-8_26

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  • Print ISBN: 978-3-642-40336-1

  • Online ISBN: 978-3-642-40337-8

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