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Encyclopedia of Ophthalmology pp 1–3Cite as

Morquio Syndrome

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Synonyms

Morquio-Brailsford syndrome; MPS-IV; Mucopolysaccharidoses IV

Definition

Morquio syndrome is a lysosomal storage disease involving the failure to break down and therefore the deposition and accumulation of the glycosaminoglycan keratan sulfate in the body.

Etiology

Mucopolysaccharidoses (MPS) result in the accumulation of glycosaminoglycans (GAGs) secondary to the enzyme necessary to break down the GAG being either deficient or defective. Morquio syndrome has a more severe Type A and a more mild Type B form which are caused by the lack of two separate enzymes for each. Patients with Type A Morquio syndrome lack N -acetyl-galactosamine-6-sulfate sulfatase. This results in an accumulation of keratin sulfate and also chondroitin sulfate. Patients with the milder Type B Morquio syndrome lack the enzyme b-galactosidase which results in an accumulation of keratan sulfate. Morquio syndrome is inherited in an autosomal recessive pattern.

Clinical Presentation

Patients present...

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Further Reading

  • Baehner F, Schmiedeskamp C, Krummenauer F et al (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28(6):1011–1017

    Article  CAS  PubMed  Google Scholar 

  • Borlot F, Arantes PR, Quaio CR, Franco JF, Lourenco CM, Gomy I, Bertola DR, Kim CA (2014) Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement. Am J Med Genet 164(5):1162–1169

    Article  CAS  Google Scholar 

  • Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T (2007) International morquio a registry: clinical manifestation and natural course of morquio a disease. J Inherit Metab Dis 30(2):165–174

    Article  CAS  PubMed  Google Scholar 

  • Nelson J (1997) Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 101(3):355–358

    Article  CAS  PubMed  Google Scholar 

  • Wraith JE, Beck M, Lane R et al (2007) Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational stud of recombinant human alpha-L-iduronidase (laronidase). Pediatrics 120:e37–e46

    Article  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Ophthalmology, George Washington University, Washington, DC, USA

    Atif Mohiuddin

Authors
  1. Atif Mohiuddin
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Correspondence to Atif Mohiuddin .

Editor information

Editors and Affiliations

  1. Dept of Ophthal & Optometry,AKH, Medical University of Wien Dept of Ophthal & Optometry,AKH, Wien, Austria

    Ursula Schmidt-Erfurth

  2. Department of Ophthalmology, Goethe University of Frankfurt am Main Department of Ophthalmology, Frankfurt am Main, Germany

    Thomas Kohnen

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© 2014 Springer-Verlag Berlin Heidelberg

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Mohiuddin, A. (2014). Morquio Syndrome. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_812-1

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  • DOI: https://doi.org/10.1007/978-3-642-35951-4_812-1

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-35951-4

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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