diseases
Mucopolysaccharidosis
Mucopolysaccharidosis are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs).
Posted September 23, 2022 by Anusha ‐ 3 min read
Caffey Disease
Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, joint swelling, and pain in children, with onset between birth and five months and spontaneous resolution by age two years.
Posted September 23, 2022 by Anusha ‐ 3 min read
Krabbe Disease
Krabbe disease is a rare genetic disorder of the nervous system that usually results in death. People with Krabbe disease have a deficiency of galactosylceramidase production, which results in extensive degeneration of the myelin sheaths surrounding nerves in the brain.
Posted September 23, 2022 by Anusha ‐ 2 min read
Amyloidosis
Amyloidosis (also called 'primary' amyloidosis) is a blood illness in which a special protein builds up in various parts of the body. This protein, called 'M-protein', is actually made up of pieces from immunoglobulins (also called antibodies) which are naturally in the body and fight off infection.
Posted September 23, 2022 by Anusha ‐ 2 min read
Epidermolysis Bullosa
Epidermolysis bullosa is a rare condition that causes fragile, blistering skin. The blisters may appear in response to minor injury, even from heat, rubbing or scratching. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or stomach.
Posted September 23, 2022 by Anusha ‐ 4 min read