Morquio syndrome B

Common Name(s)

Morquio syndrome B, Mucopolysaccharidosis, MPS-IV-B

Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion ({12:Suzuki et al., 2001}). See mucopolysaccharidosis type IVA ({253000}), also known as Morquio syndroem A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene ({612222}). There may also be a nonkeratansulfate-excreting form of Morquio syndrome, so-called type C ({252300}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

Last Updated: 22 Oct 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

http://www.mpssociety.org

Last Updated: 22 Oct 2012

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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 B" returned 2 free, full-text research articles on human participants. First 3 results:

Processing of human beta-galactosidase in GM1-gangliosidosis and Morquio B syndrome.
 

Author(s): A T Hoogeveen, H Graham-Kawashima, A d'Azzo, H Galjaard

Journal: J. Biol. Chem.. 1984 Feb;259(3):1974-7.

 

The nature of the molecular defect resulting in the beta-galactosidase deficiency in different forms of GM1-gangliosidosis and mucopolysaccharidosis IV B (Morquio B syndrome) was investigated. Normal and mutant cultured skin fibroblasts were labeled in vivo with [3H]leucine and immunoprecipitation ...

Last Updated: 16 Mar 1984

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Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.
 

Author(s): H Groebe, M Krins, H Schmidberger, K von Figura, K Harzer, H Kresse, E Paschke, A Sewell, K Ullrich

Journal: Am. J. Hum. Genet.. 1980 Mar;32(2):258-72.

 

Two male patients, aged 6 and 25, both with normal intelligence and absence of neurological abnormalities, exhibited dysostosis multiplex, dwarfism, odontoid anomalies, cloudy corneas, exessive excretion of keratan sulfate, and abnormal urinary oligosaccharides. Leukocytes and fibroblasts ...

Last Updated: 28 Aug 1980

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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 B" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

BMN 110 Phase 3B in Australian Patients
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis IVA (Morquio A Syndrome)

 

Last Updated: 28 Oct 2013

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MT2013-31:Allo BMT for Metabolic Disorders, Osteopetrosis and Males With Rett Syndrome
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Glycoprotein Metabolic Disorders; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy; Peroxisomal Disorders; Osteopetrosis; Rett Syndrome; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

 

Last Updated: 18 Jul 2014

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