Search results
Results From The WOW.Com Content Network
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions.
Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes.
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.
Gorham's disease (pronounced GOR-amz), also known as Gorham vanishing bone disease and phantom bone disease, [1] is a very rare skeletal condition of unknown cause.It is characterized by the uncontrolled proliferation of distended, thin-walled vascular or lymphatic channels within bone, which leads to resorption and replacement of bone with angiomas and/or fibrosis.
I-cell disease is associated with various clinical features that affect physical appearance, organ function, and growth development. The severity of these symptoms varies between individuals, though the prognosis is poor due to the disease’s systemic nature. I-Cell Disease patients may also experience impaired cognitive and motor development.
I-cell disease is an autosomal recessive disorder caused by a deficiency of GlcNAc phosphotransferase, which phosphorylates mannose residues to mannose-6-phosphate on N-linked glycoproteins in the Golgi apparatus within cells.
Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). [2] [3] The lack of this enzyme causes heparan sulfate and dermatan sulfate to accumulate in all body tissues. [4] Hunter syndrome is the only MPS syndrome to exhibit X-linked recessive inheritance. [4] The symptoms of Hunter syndrome are comparable ...
Whole blood with microfilaria worm, giemsa stain. L. loa worms have a simple structure consisting of a head (which lacks lips), a body, and a blunt tail. The outer body of the worm is composed of a cuticle with three main layers made up of collagen and other compounds which aid in protecting the nematodes while they are inside the digestive system of their host.