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
References in periodicals archive ?
The CGD Research Trust founded the campaign and invited other charities to join in - Great Ormond Street Hospital Children's Charity, The Cystic Fibrosis Trust, The Primary Immunodeficiency Association, and the Society for Mucopolysaccharide Diseases.
Christine Lavery of the Society of Mucopolysaccharide diseases - of which Sanfilippo is one - said: "Because it is often not diagnosed until the ages of three and four, many families have by that time already had more affected children.
All money raised will be split between Cancer Research and the Society of Mucopolysaccharide Diseases, a support group for people with rare inherited disorders.
Elaine and Barbara are also urging people to get involved in the Society for Mucopolysaccharide Diseases' first awareness day on Tuesday, to highlight illnesses including Hunter syndrome.
The money is divided equally between the Great Ormond Street Hospital Children's Charity, the Cystic Fibrosis Trust, the Primary Immunodeficiency Association, the Chronic Granulomatous Disorder Research Trust, and the Society of Mucopolysaccharide Diseases. This year for the first time, limited edition Jeans for Genes T-shirts and badges are on sale in high street stores including Burton Menswear, Dorothy Perkins and Warehouse.
The Jeans for Genes Campaign is led by four partner charities: Great Ormond Street Hospital Children's Charity, The Primary Immunodeficiency Association (PiA), The Society for Mucopolysaccharide Diseases (MPS), The Chronic Granulomatous Disorder (CGD) Research Trust.
The money is divided equally between the Great Ormond Street Hospital Children's Charity, the Primary Immunodificiency Association, the Society for Mucopolysaccharide Diseases and the Chronic Granulomatous Disorder Research Trust.