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Morquio syndrome

Pronunciation: mor'kyo

Definition: an error of mucopolysaccharide metabolism with excretion of keratan sulfate in urine; characterized 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 IVA mucopolysaccharidosis is due to an absence of galactose-1-sulfatase and is caused by mutation in the N-acetylgalactosamine-6-sulfate sulfatase gene (GALNS) on 16q, whereas type IVB is due to a deficiency of a ß-galactosidase, and is caused by mutation in ß-galactosidase gene (GLB1) on 3p.

Synonym(s): Brailsford-Morquio disease, Morquio disease, Morquio-Ullrich disease, mucopolysaccharidosis type IVA, IVB

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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