Brailsford-morquio disease

Brailsford-morquio disease --> morquios syndrome

(Science: syndrome) An error of mucopolysaccharide metabolism with excretion of keratan sulfate in urine; characterised by severe skeletal defects with short stature, severe deformity of spine and thorax, long bones with irregular epiphyses but with shafts of normal length, enlarged joints, flaccid ligaments, and waddling gait; autosomal recessive inheritance; type iv a mucopolysaccharidosis is due to an absence of galactose-1-sulfatase, while type iv B is due to a deficiency of a beta-Galactosidase.

Synonym: brailsford-morquio disease, morquios disease, morquio-ullrich disease, type IVA, B mucopolysaccharidosis.

Please contribute to this project, if you have more information about this term feel free to edit this page

This page was last modified on 3 October 2005, at 21:16. This page has been accessed 953 times. 
What links here | Related changes | Permanent link