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 Microcephaly:
- Dictionary medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing. Microcephaly can be present at birth or it may mucopolysaccharidoses definition.
- Definition Menkes Disease:
- Dictionary caused by a defective gene that regulates the metabolism of copper in the body. Because it is an X-linked gene, the disease primarily affects male infants. Copper accumulates at abnormally low mucopolysaccharidoses explain.
- Definition Miller Fisher Syndrome:
- Dictionary Syndrome - is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barre syndrome. It is characterized by abnormal muscle coordination, paralysis of the eye muscles, and mucopolysaccharidoses what is.
- Definition Motor Neuron Diseases:
- Dictionary Diseases - (MNDs) are a group of progressive neurological disorders that destroy motor neurons, the cells that control essential voluntary muscle activity such as speaking, walking, breathing, and mucopolysaccharidoses meaning.