Start Submission Become a Reviewer

Reading: A child with Morquio syndrome and mixed mitral valve disease

Download

A- A+
Alt. Display

Case Reports

A child with Morquio syndrome and mixed mitral valve disease

Authors:

DSG Mettananda ,

Department of Paediatrics, Faculty of Medicine, University of Kelaniya, Sri Lanka, LK
X close

Aswini D Fernando

Department of Paediatrics, Faculty of Medicine, University of Kelaniya, Sri Lanka, LK
X close

Abstract

Mucopolysaccaharidoses (MPSs) are a group of inherited storage diseases caused by a deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAGs). The MPSs are a heterogenous group characterised by intra-lysosomal accumulation of GAGs, excessive urinary excretion of GAGs, and variable degrees of progressive mental and physical deterioration. Mucopolysaccharidosis type IV (Morquio syndrome) is autosomal recessively inherited. The primary pathology is defective degradation of keratan sulphate due to one of two enzyme deficiencies; n-acetylgalactoseamine-6-sulfate (chromosome 16q) or β-galactosidase (chromosome 3p) .

doi:10.4038/cmj.v53i1.223

Ceylon Medical Journal Vol. 53, No. 1, March 2008 pp. 24-25

Keywords: Morquio syndrome  
DOI: https://doi.org/10.4038/cmj.v53i1.223
How to Cite: Mettananda, D. and Fernando, A.D., 2008. A child with Morquio syndrome and mixed mitral valve disease. Ceylon Medical Journal, 53(1), pp.24–25. DOI: http://doi.org/10.4038/cmj.v53i1.223
Published on 09 Dec 2008.
Peer Reviewed

Downloads

  • PDF (EN)

    comments powered by Disqus