This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. Find sources: "Mucopolysaccharidosis" – news · newspapers · books · scholar · JSTOR(November 2020) (Learn how and when to remove this message)
Medical condition
Mucopolysaccharidosis
A 16-year-old male with rapidly progressing MPS-VI, showing characteristic facial features and skeletal abnormalities
Specialty
Endocrinology
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs (formerly called mucopolysaccharides) are also found in the fluids that lubricate joints.
Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these GAGs collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning.
The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of genetic disorders that result when the lysosome organelle in animal cells malfunctions. The lysosome can be thought of as the cell's recycling center because it processes unwanted material into other substances that the cell can utilize. Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival. Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is missing altogether.
and 22 Related for: Mucopolysaccharidosis information
experience severe mucopolysaccharidosis type I, while approximately 1 in 500,000 newborns will experience attenuated mucopolysaccharidosis type I. Most...
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects...
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs...
[citation needed] All members of the mucopolysaccharidosis family are also lysosomal storage diseases. Mucopolysaccharidosis type I (MPS I) is divided into...
Sly syndrome, also called mucopolysaccharidosis type VII (MPS-VII), is an autosomal recessive lysosomal storage disease caused by a deficiency of the...
Morquio syndrome, also known as mucopolysaccharidosis type IV (MPS IV), is a rare metabolic disorder in which the body cannot process certain types of...
Mucopolysaccharidosis type I is a spectrum of diseases in the mucopolysaccharidosis family. It results in the buildup of glycosaminoglycans (or GAGs,...
type 3 Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Sly syndrome Mucopolysaccharidosis type I Hurler syndrome Mucopolysaccharidosis type I...
glycosaminoglycans (GAGs) in the body. It is the most mild subtype of mucopolysaccharidosis type I; the most severe subtype of this disease is called Hurler...
(MPS) constitute a commonly seen group of osteochondrodysplasias. Mucopolysaccharidosis can cause a wide spectrum of clinical and radiologic manifestations...
2016). "Mucopolysaccharidosis Type I". GeneReviews. Seattle (WA): University of Washington. ISSN 2372-0697. PMID 20301341. "Mucopolysaccharidosis type I"...
(also called mucopolysaccharidosis type VI) Iduronidase (branded as Aldurazyme), a recombinant protein therapeutic for mucopolysaccharidosis I Amifampridine...
an enzyme replacement therapy (Aldurazyme) for the rare disorder Mucopolysaccharidosis (MPS I). The struggle to get the therapy translated from a successful...
the United States Hurler syndrome, genetic disorder also known as mucopolysaccharidosis type I (MPS I), Hurler's disease, or gargoylism The Hurlers (stone...
Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6. "Mucopolysaccharidosis". "MUCOPOLYSACCHARIDOSIS, TYPE IX;MPS9". Clinical and Biochemical Manifestations...
structures degradation. Mutations in the gene encoding this enzyme cause mucopolysaccharidosis IIIC. GRCh38: Ensembl release 89: ENSG00000165102 – Ensembl, May...
prototype automobile designed by Ettore Bugatti Mucopolysaccharidosis type 6, a form of mucopolysaccharidosis C-C chemokine receptor type 6, a CC chemokine...
original on 2013-08-13. Retrieved 2012-06-27. Skipperke Club, p. 2 "Mucopolysaccharidosis (MPS) IIIB". UPenn School of Veterinary Medicine. "New DNA-based...
genetic disorder Acrocephalosyndactyly, type V, a genetic disorder Mucopolysaccharidosis type V, a metabolic disorder Myosin type v, a motor protein a Type...
4-sulfate sulfohydrolase, EC 3.1.6.12) is an enzyme associated with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome). Arylsulfatase B is among a group of...
Global Information
