What MUCOPOLYSACCHARIDOSES means: Mucopolysaccharidoses - The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain 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.
- Definition Myotonia:
- Dictionary inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present since early childhood, but symptoms can be mild mucopolysaccharidoses definition.
- Definition Meralgia Paresthetica:
- Dictionary Paresthetica - is a disorder characterized by tingling, numbness, and burning pain in the outer side of the thigh. The disorder is caused by compression of the lateral femoral cutaneous nerve as it mucopolysaccharidoses explain.
- Definition Melkersson-Rosenthal Syndrome:
- Dictionary Rosenthal Syndrome - is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in mucopolysaccharidoses what is.
- Definition Metachromatic Leukodystrophy:
- Dictionary Leukodystrophy - (MLD, also called Arylsulfatase A deficiency) is the most common form of a family of genetic diseases known as the leukodystrophies, diseases which affect the growth and/or mucopolysaccharidoses meaning.
