mucopolysaccharidosis

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mucopolysaccharidosis

 [mu″ko-pol″ĭ-sak″ah-rĭ-do´sis] (pl. mucopolysaccharido´ses)
any of a group of genetically determined disorders due to a defect in mucopolysaccharide metabolism, marked by skeletal changes, mental retardation, visceral involvement, and corneal clouding, with widespread tissue deposits and mucopolysacchariduria. hurler's syndrome is the prototype of this disorder.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

mu·co·pol·y·sac·cha·ri·do·sis

, pl.

mu·co·pol·y·sac·cha·ri·do·ses

(myū'kō-pol'ē-sak'ă-ri-dō'sis, -sēz), [MIM*252700]
Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with resulting various defects of bone, cartilage, connective tissue, and other organs.
Farlex Partner Medical Dictionary © Farlex 2012

mucopolysaccharidosis

(myo͞o′kō-pŏl′ē-săk′ə-rĭ-dō′sĭs)
n.
Any of several progressive genetic diseases characterized by the absence or nonfunctioning of enzymes that break down glycosaminoglycans (formerly called mucopolysaccharides), resulting in accumulation of gylcosaminoglycans in the tissues and dysfunction of multiple organ systems, especially the skeletal and nervous sytems. The types include MPS IH (Hurler syndrome), MPS IH/S (Hurler-Scheie syndrome), MPS IS (Scheie syndrome, formerly known as MPS V), MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), MPS IV (Morquio syndrome), MPS VI (Maroteaux-Lamy syndrome), and MPS VII (Sly syndrome).
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

mucopolysaccharidosis

A heterogeneous group of diseases each caused by a specific enzyme deficiency, resulting in an accumulation of substrate mucopolysaccharides–glycosaminoglycans–eg, dermatan sulfate, heparan sulfate, keratan sulfates Clinical Childhood onset of Sx–eg, developmental delay, mental retardation, short stature, skeletal anomalies–dysostosis multiplex, coarse facial features, hepatosplenomegaly. See Gargoyle face.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

mu·co·pol·y·sac·cha·ri·do·sis

, pl. mucopolysaccharidoses (myū'kō-pol'ē-sak'ă-ri-dō'sis, -sēz)
Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with resulting various defects of bone, cartilage, connective tissue, and other organs.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

mu·co·pol·y·sac·cha·ri·do·sis

, pl. mucopolysaccharidoses (myū'kō-pol'ē-sak'ă-ri-dō'sis, -sēz) [MIM*252700]
Any of a group of lysosomal storage diseases that share a disorder in metabolism of mucopolysaccharides.
Medical Dictionary for the Dental Professions © Farlex 2012
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