Gourt > Health > Conditions and Diseases > Nutrition and Metabolism Disorders > Inherited > Mucopolysaccharidoses (1)
The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called Glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. Glycosaminoglycans (formerly called mucopolysaccharides) are also found in the fluid that lubricates our joints.
People with a mucopolysaccharidosis either do not produce enough of one of the 11 enzymes required to break down these sugar chains into proteins and simpler molecules or they produce enzymes that do not work properly. Over time, these glycosaminoglycans collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage that affects the individual's appearance, physical abilities, organ and system functioning, and, in most cases, mental development.
The mucopolysaccharidoses are classified as lysosomal storage diseases. These are conditions in which large numbers of molecules that are normally broken down or degraded into smaller pieces by intracellular units called lysosomes accumulate in harmful amounts in the body's cells and tissues, particularly in the lysosomes.
More on [ Mucopolysaccharidosis ]
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Related Diseases - Founded to provide information and support to affected individuals and their families.
Fairview Health Services (USA): Maroteaux-Lamy Syndrome - Talks about what the disorder is and treatments being used in clinical trials.
Meta Description: [ Maroteaux-Lamy syndrome is a rare genetic disorder where the enzyme (arylsulfatase B), which normally breaks down the mucopolysaccharides dermatan sulfate, is missing. ]
Family Village Library: Mucopolysaccharidosis - Lists types, places to chat, and websites.
Morquio - Yahoo message group that offers support to those afflicted with mucopolysaccharide accumulation.
Meta Description: [ Morquio: A group for those affected by Morquio ]
Mucopolysaccharide Disorders - Describes the various types and looks particularly at behavioral and educational issues. Put together by the psychologist Michael B. Brown, Ph.D.
National MPS Society - Non-profit organanization advocating for families affected by the Mucopolysaccharide diseases. Located in Bangor, Maine, USA.
NINDS Mucopolysaccharidoses Information Page - Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
Meta Description: [ Mucopolysaccharidoses (MPS) fact sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). ]
NORD: Mucopolysaccharidoses - Offers a list of synonyms, a general discussion and further resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]
The MPS Cup - A star studded fantasy hockey game and auction, allowing participants to play along side some of hockey's great alumni, while helping to educate both professionals and the general public about MPS and raise money for research.
The Ryan Foundation - A non-profit organization supporting research for those suffering from Mucopolysaccharidosis, or MPS and their families. Articles, including one on the Ryan's current health status, and links.
The Society for Mucopolysaccharide Diseases - A voluntary support group in the UK which represents children and adults suffering from Mucopolysaccharide and Related Lysosomal Storage Diseases, their families, carers and professionals.
