TITLE

Attenuated mucopolysaccharidosis: are you missing this debilitating condition?

AUTHOR(S)
Lampe, Christina
PUB. DATE
March 2012
SOURCE
Rheumatology;Mar2012, Vol. 51 Issue 3, p401
SOURCE TYPE
Academic Journal
DOC. TYPE
Editorial
ABSTRACT
The author offers clinical information on mucopolysaccharidosis (MPS), a rare condition often misdiagnosed because of the perception that this condition is a childhood disease. He explains that patients with attenuated or slow-progressing MPS will often fail to initially receive a correct diagnosis and may present with bone and joint. He discusses the effect of MPS on the skeletal system, heart, eyes, ears and lungs.
ACCESSION #
72441735

 

Related Articles

  • Putting collagen back in the collagen vascular disorders. Sundel, Robert P. // Rheumatology;Dec2011 Supplement 5, Vol. 50 Issue suppl_5, pv60 

    An introduction is presented in which the editor discusses various reports within the issue on topics including mucopolysaccharidoses (MPSs), glycosaminoglycans and primary care.

  • Diagnosis of the mucopolysaccharidoses. Lehman, Thomas J. A.; Miller, Nicole; Norquist, Becky; Underhill, Lisa; Keutzer, Joan // Rheumatology;Dec2011 Supplement 5, Vol. 50 Issue suppl_5, pv41 

    The mucopolysaccharidoses (MPSs) often present a diagnostic challenge, particularly for patients who have more slowly progressive disease phenotypes, as early disease manifestations can be subtle or non-specific. However, certain types of bone and joint involvement should always prompt...

  • Overview of the mucopolysaccharidoses. Muenzer, Joseph // Rheumatology;Dec2011 Supplement 5, Vol. 50 Issue suppl_5, pv4 

    The mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy. The MPSs are heterogeneous, progressive disorders. Patients typically appear normal at birth, but...

  • Improved diagnostic procedures in attenuated mucopolysaccharidosis. Hendriksz, Chris // British Journal of Hospital Medicine (17508460);Feb2011, Vol. 72 Issue 2, p91 

    The article highlights the need for improved procedures to promptly diagnose attenuated mucopolysaccharidosis in older patients, and emphasizes the use of diagnostic algorithm, a step-by-step guide to its diagnosis. Details pertaining to the presenting symptoms, common misdiagnosis, genetic...

  • Combined spinal arthrodesis with instrumentation for the management of progressive thoracolumbar kyphosis in children with mucopolysaccharidosis. Garrido, Enrique; Tomé-Bermejo, Félix; Adams, Christopher // European Spine Journal;Dec2014, Vol. 23 Issue 12, p2751 

    Purpose: To evaluate the outcome and complications of a novel technique for the treatment of progressive thoracolumbar kyphosis in children with mucopolysaccharidosis (MPS). Methods: The medical records and spinal imaging of four consecutive paediatric patients who underwent a single stage...

  • Enzyme Replacement in a Human Model of Mucopolysaccharidosis IVA In Vitro and Its Biodistribution in the Cartilage of Wild Type Mice. Dvorak-Ewell, Melita; Wendt, Dan; Hague, Chuck; Christianson, Terri; Koppaka, Vish; Crippen, Danielle; Kakkis, Emil; Vellard, Michel // PLoS ONE;2010, Vol. 5 Issue 8, p1 

    Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of Nacetylgalactosamine- 6-sulfatase (GALNS), an enzyme that degrades keratan sulfate (KS). Currently no therapy for MPS IVA is available. We produced recombinant human (rh)GALNS as a...

  • Ocular manifestations as key features for diagnosing mucopolysaccharidoses. Summers, C. Gail; Ashworth, Jane L. // Rheumatology;Dec2011 Supplement 5, Vol. 50 Issue suppl_5, pv34 

    Diagnosis of mucopolysaccharidosis (MPS) requires awareness of the multisystem disease manifestations and their diverse presentation in terms of time of onset and severity. Many patients with MPS remain undiagnosed for years and progressively develop irreversible pathologies, which ultimately...

  • A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses. Langereis, Eveline J.; Wagemans, Tom; Kulik, Wim; Lefeber, Dirk J.; van Lenthe, Henk; Oussoren, Esmee; van der Ploeg, Ans T.; Ruijter, George J.; Wevers, Ron A.; Wijburg, Frits A.; van Vlies, Naomi // PLoS ONE;9/25/2015, Vol. 10 Issue 9, p1 

    Introduction: Diagnosis of the mucopolysaccharidoses (MPSs) generally relies on an initial analysis of total glycosaminoglycan (GAG) excretion in urine. Often the dimethylmethylene blue dye-binding (DMB) assay is used, although false-negative results have been reported. We report a multiplexed...

  • A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis. Walter-Nicolet, Elisabeth; Rakza, Thameur; Storme, Laurent; Vaillant, Catherine; Magnenant, Eric; Cremer, Robin; Thumerelle, Caroline; Dobbelaere, Dries // European Journal of Pediatrics;2003, Vol. 162 Issue 7/8, p520 

    Reports on a case of mucopolysaccharidosis type VII (MPS VII) presenting as with non-immune hydrops fetalis, facial dysmorphism, hepatosplenomegaly and hypertrophic cardiomyopathy. Description of the patient as the second child of first-cousin parents from Algeria; Post-natal clinical...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics