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Disease Information for Morquio's mucopolysaccharidosis synd.: Definition
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- 104 possible findings found
- Clinical Manifestations (34)
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- External Links Related to Morquio's mucopolysaccharidosis synd.
Morquio Syndrome; MPS IV; Morquio Disease; Mucopolysaccharidosis IV; Morquio Syndrome A ; Morquio Syndrome B; Mucopolysaccharidoses, which are also known as mucopolysaccharide storage (MPS) diseases, are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes; The lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates (mucopolysaccharides) into simpler molecules; The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities; Morquio syndrome (MPS IV) is a mucopolysaccharide storage disease that occurs in two forms: type A , caused by deficiency of lysosomal N-acetylgalactosamine-6-sulfatase, and type B, caused by a deficiency of lysosomal beta-galactosidase; Type A is more common, but the two types generally have the same symptoms; Deficiency of either enzyme leads to an accumulation of keratan sulfate, and bony abnormalities of the head, chest, hands, knees and spine may occur as a result of this metabolic defect; Intelligence is normal; [NORD 2005]--------------------------------------
Morquio-Brailsford syndrome;Brailsford syndrome or disease;
Brailsford-Morquio dystrophy syndrome; Dale’s syndrome;
Morquio’s syndrome or disease; Morquio-Brailsford disease;
Morquio-Ullrich syndrome or disease; Atypical chondrodystrophy; chondrodystrophia congenita tarda; chondrodystrophia tarda; achondro-osteodystrophy; dysostosis echondralis metaepiphysaria; Eccentrochondrodysplasia, eccentro-osteochondrodysplasia, familial osseous dystrophy, hereditary chondrodysplasia, hereditary osteochondrodystrophy, hereditary osteochondrodystrophy deformans, hereditary polytopic enchondral dysostosis, keratosulfaturia, keratan sulfaturia syndrome, KS mucopolysaccharidosis, mucopolysaccharidosis IV syndrome, mucopolysaccharidosis IV-A, osteochondrodystrophia deformans, osteochondrodystrophy, spondylo-epiphyseal dysplasia