Deficiency, adenosine deaminase (ADA)
Deficiency, adenosine deaminase (ADA): A genetic (inherited) condition that results in a immune deficiency disorder called severe combined immunodeficiency disease. Adenosine deaminase is an enzyme that plays a key role in salvaging purine molecules.
ADA deficiency is of special interest in the history of genetics. The first successful instance of gene therapy in humans was carried out in 1990 by Drs. W. French Anderson, R. Michael Blaese and Kenneth W. Culver who infused genetically engineered blood cells to repair ADA deficiency.
Read Also:
- Deficiency, alpha-1 antitrypsin
Deficiency, alpha-1 antitrypsin: An inherited disorder characterized by a lack of the alpha-1 antitrypsin protease inhibitor. Alpha-1 antitrypsin deficiency leads to damage of various organs, especially the lung and liver. Symptoms may become apparent at a very early age or anytime later, manifesting as shortness of breath due to emphysema or as liver symptoms such […]
- Deficiency, ankyrin
Deficiency, ankyrin: Known also as hereditary spherocytosis (HS), this is a genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen), due to deficiency of ankyrin, a protein in the membrane of the red cell. In HS the red cells are smaller, rounder, and more […]
- Deficiency, calcium
Deficiency, calcium: A low blood level of calcium (hypocalcemia), which can make the nervous system highly irritable, causing spasms of the hands and feet (tetany), muscle cramps, abdominal cramps, overly active reflexes, and so on. Chronic calcium deficiency contributes to poor mineralization of bones, soft bones (osteomalacia) and osteoporosis, and, in children, rickets and impaired […]
- Deficiency, FALDH
Deficiency, FALDH: Also known as the Sjogren-Larsson syndrome, this is a genetic (inherited) disease usually characterized by a triad of clinical findings consisting of ichthyosis (thickened fish-like skin), spastic paraplegia (spasticity of the legs) and mental retardation. The skin changes in the Sjogren-Larsson syndrome are similar to those in congenital ichthyosiform erythroderma, a genetic disease […]
- Deficiency, ceruloplasmin
Deficiency, ceruloplasmin: Lack of the protein ceruloplasmin from the blood and accumulation of iron in the pancreas, liver and brain, causing diabetes and progressive nervous system degeneration with the tremors and gait abnormalities characteristic of Parkinson disease. Ceruloplasmin deficiency is agenetic condition, also known as aceruloplasminemia. Ceruloplasmin normally removes iron from cells. The absence of […]