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      Morquio Syndrome: A Case Report

      case-report
      Author(s): 1 , , 2 , 3
      Editor(s): ,
      Publication date (Electronic, pub):
      Publication date (Electronic, collection):
      Journal: Cureus
      Publisher: Cureus
      Keywords: morquio syndrome, mucopolysaccharidosis

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          Abstract

          Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disease. The main features include skeletal defects and possible cardiopulmonary complications. The cost of diagnosing and treating this condition is high, and treatment is not easily available everywhere. We present a case of Morquio syndrome seen in a seven-year-old male from Iraq with multiple skeletal deformities.

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          N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.

          D Tavella, P Niebes, N Ferrante … (1976)
          Human N-acetylgalactosamine-6-sulfate sulfatase (6-sulfatase) activity is measured by using as a substrate a sulfated tetrasaccharide obtained by digesting purified chondroitin-6-sulfate (C-6-S) with testicular hyaluronidase. The amount of inorganic sulfate released is measured turbidimetrically. The enzyme from human kidney has a pH optimum of 4.8; its activity is augmented by low levels of NaCl and inhibited by phosphate and high levels of NaCl. Free glucuronate, acetylgalactosamine, inorganic sulfate, polymeric C-6-S, or tetrasaccharide obtained from chondroitin-4-sulfate do not affect the enzyme activity. The method may be used for the diagnosis of Morquio disease since extracts of Morquio fibroblasts are devoid of 6-sulfatase activity.
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            The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.

            Wu-hua Guo, Melissa J. Hopwood, Kimberly Baker … (1992)
            The gene for N-acetylgalactosamine-6-sulfatase, the deficiency of which results in Morquio A syndrome (mucopolysaccharidosis type IVA), was assigned to chromosome 16 at band q24.3 by fluorescence in situ hybridization. Localization of this band was confirmed by PCR analysis of a somatic cell hybrid panel used for fine mapping of chromosome 16.
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              Trends in haematopoietic cell transplantation for inborn errors of metabolism

              JJ Boelens (2006)
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                Author and article information

                Journal
                Journal ID (nlm-ta): Cureus
                Journal ID (iso-abbrev): Cureus
                Journal ID (issn): 2168-8184
                Title: Cureus
                Publisher: Cureus (Palo Alto (CA) )
                ISSN (Electronic): 2168-8184
                Publication date (Electronic, pub): 5 March 2018
                Publication date (Electronic, collection): March 2018
                Volume: 10
                Issue: 3
                Electronic Location Identifier: e2270
                Affiliations
                [1 ] Department of Pediatrics, Shanghai Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China
                [2 ] Department of Pediatrics, Robert Reid Cabral Children's Hospital Affiliated to the University Iberoamericana Unibe School of Medicine
                [3 ] Sir Seewoosagur Ramgoolam National Hospital
                Author notes
                Article
                DOI: 10.7759/cureus.2270
                PMC ID: 5935432
                PubMed ID: 29736354
                SO-VID: ec7f037f-377a-4086-8758-9926fa10dd0e
                Copyright © Copyright © 2018, Ramphul et al.
                License:

                This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                Date received : 17 February 2018
                Date accepted : 5 March 2018
                Categories
                Subject: Pediatrics

                Keywords: morquio syndrome,mucopolysaccharidosis
                Data availability:
                Keywords: morquio syndrome, mucopolysaccharidosis

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