Morquio Syndrome

Common Name(s)

Morquio Syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Morquio Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Morquio Syndrome" returned 32 free, full-text research articles on human participants. First 3 results:

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.
 

Author(s): Claudia Cozma, Sabrina Eichler, Gyula Wittmann, Alba Flores Bonet, Guido Johannes Kramp, Anne-Katrin Giese, Arndt Rolfs

Journal:

 

Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6-sulfate in tissues and secondary ...

Last Updated: 7 Jul 2015

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Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.
 

Author(s): Paul R Harmatz, Karl Eugen Mengel, Roberto Giugliani, Vassili Valayannopoulos, Shuan-Pei Lin, Rossella Parini, Nathalie Guffon, Barbara K Burton, Christian J Hendriksz, John J Mitchell, Ana Maria Martins, Simon A Jones, Norberto Guelbert, Ashok Vellodi, Frits A Wijburg, Ke Yang, Peter Slasor, Celeste Decker

Journal: Mol. Genet. Metab.. 2015 Feb;114(2):186-94.

 

Baseline data from the Morquio A Clinical Assessment Program (MorCAP) revealed that individuals with Morquio A syndrome show substantial impairment in multiple domains including endurance and respiratory function (Harmatz et al., Mol Genet Metab, 2013). Here, 1- and 2-year longitudinal ...

Last Updated: 31 Jan 2015

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Overcoming the barriers to diagnosis of Morquio A syndrome.
 

Author(s): Kaustuv Bhattacharya, Shanti Balasubramaniam, Yew Sing Choy, Michael Fietz, Antony Fu, Dong Kyu Jin, Ok-Hwa Kim, Motomichi Kosuga, Young Hee Kwun, Anita Inwood, Hsiang-Yu Lin, Jim McGill, Nancy J Mendelsohn, Torayuki Okuyama, Hasri Samion, Adeline Tan, Akemi Tanaka, Verasak Thamkunanon, Teck-Hock Toh, Albert D Yang, Shuan-Pei Lin

Journal:

 

Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.

Last Updated: 28 Apr 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Morquio Syndrome" returned 6 free, full-text review articles on human participants. First 3 results:

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.
 

Author(s): Joel Charrow, Tord D Alden, Catherine Ann R Breathnach, Geoffrey P Frawley, Christian J Hendriksz, Bianca Link, William G Mackenzie, Renzo Manara, Amaka C Offiah, Martha L Solano, Mary Theroux

Journal: Mol. Genet. Metab.. 2015 Jan;114(1):11-8.

 

Mucopolysaccharidosis IVA is an autosomal recessive condition caused by mutations in the GALNS gene, which encodes N-acetylgalactosamine-6-sulfatase, also called galactosamine-6-sulfatase (GALNS). A reduction in or absence of effective GALNS leads to faulty catabolism of keratan sulfate ...

Last Updated: 27 Dec 2014

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A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.
 

Author(s): Regina M Leadley, Shona Lang, Kate Misso, Trudy Bekkering, Janine Ross, Takeyuki Akiyama, Michael Fietz, Roberto Giugliani, Chris J Hendriksz, Ngu Lock Hock, Jim McGill, Andrew Olaye, Mohit Jain, Jos Kleijnen

Journal:

 

Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan.

Last Updated: 28 Apr 2015

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International guidelines for the management and treatment of Morquio A syndrome.
 

Author(s): Christian J Hendriksz, Kenneth I Berger, Roberto Giugliani, Paul Harmatz, Christoph Kampmann, William G Mackenzie, Julian Raiman, Martha Solano Villarreal, Ravi Savarirayan

Journal: Am. J. Med. Genet. A. 2015 Jan;167A(1):11-25.

 

Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental ...

Last Updated: 22 Dec 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Morquio Disease
 

Status: Recruiting

Condition Summary: Lysosomal Storage Diseases; Morquio Disease

 

Last Updated: 10 Nov 2015

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Gait Analysis in MPS IVA
 

Status: Recruiting

Condition Summary: MPS IVA; Morquio Syndrome

 

Last Updated: 9 Aug 2013

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Longitudinal Studies of Brain Structure and Function in MPS Disorders
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Type I; Mucopolysaccharidosis Type II; Mucopolysaccharidosis Type VI; Mucopolysaccharidosis Type IV; Mucopolysaccharidosis Type VII

 

Last Updated: 9 Mar 2016

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