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Aceruloplasminemia
AceruloplasminemiaA genetic disorder in which there is absence of the protein ceruloplasmin from blood and accumulation of iron in the pancreas, liver and brain, causing diabetes and progressive neurodegeneration with the tremors and gait abnormalities characteristic of Parkinson disease. RELATED TERMS-------------------------------------- Genetic Hereditary. Having to do with the genes. Protein Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique genetically defined amino acid sequence which determines its specific shape and function. Their roles include enzymatic catalysis, transport and storage, coordinated motion, nerve impulse generation and many others. Blood The life-maintaining fluid which is made up of plasma, red blood cells (erythrocytes), white blood cells (leukocytes), and platelets; blood circulates through the body's heart, arteries, veins, and capillaries; it carries away waste matter and carbon dioxide, and brings nourishment, electrolytes, hormones, vitamins, antibodies, heat, and oxygen to the tissues. Iron A mineral in the body that works with protein to make hemoglobin, essential for the blood. Pancreas A large, elongated gland located behind the lower portion of the stomach that secretes the hormones insulin and glucagon into the blood. These hormones are essential in regulating blood sugar levels. The pancreas also secretes enzymes into the small intestine that help with digestion and neutralize acid from the stomach. Liver The largest organ in the body. The liver carries out many important functions, such as making bile, changing food into energy, and cleaning alcohol and poisons from the blood. Brain "That part of the central nervous system that is located within the cranium (skull). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called ""hemispheres."" " Diabetes A condition in which blood glucose is not well controlled. Type I diabetics make no insulin, whereas type 2 diabetics are characterized by the overproduction of insulin, but the inability of the target cells to respond to the insulin. Gait Pattern of walking. Disease Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus. SIMILAR TERMS-------------------------------------- PREVIOUS AND NEXT TERMS-------------------------------------- ACE2 (angiotensin converting enzyme 2) An essential regulator of heart function. Also may be involved in the embryonic development of the heart. The ACE2 gene has been mapped to the X chromosome (band Xp22). ACEI ACE inhibitor. Acellular Not made up of cells or divided into cells. Or lacking intact cells as, for example, an acellular vaccine which may contain cellular material but not complete cells. Acellular vaccine A vaccine that may contain cellular material but does not contain complete cells. Acentric chromosome "A fragment of a chromosome (one of the microscopically visible carriers of the genetic material DNA) that is lacking a centromere (the ""waist"" of the chromosome essential for the division and the retention of the chromosome in the cell) and so is lost when the cell divides." Aceruloplasminemia Acetabular "Pertaining to the acetabulum, the cup-shaped socket of the hip joint which is a key feature of the pelvis. The head (upper end) of the femur (the thighbone) fits into the acetabulum and articulates with it, forming a ball-and-socket joint. The acetabulum is not just cup-shaped. The word ""acetabulum"" in Latin means cup, a vinegar cup." Acetabular labrum "A ring of fibrocartilage (fibrous cartilage) that runs around the acetabulum (cup) of the hip joint and increases its depth. The head of the femur (the bone in the thigh) fits in the acetabulum. The labrum deepens this cavity and effectively increases the surface (and strength) of the hip joint. Injuries to the acetabular labrum can occur from chronic trauma due to repetitive hip motion or from acute trauma as, for example, from a direct blow to the hip or a violent motion of the hip. Signs and symptoms of a acetabular labrum injury include pain accompanying hip motion, occasional pain in the hip at night or during daily activities, decreased range of motion and loss of strength in the hip. Treatment may include anti-inflammatory medication and rest. Exercises to strengthen the hip muscles may then be recommended. If these measures are not effective, arthroscopic surgery may be done. In medicine, a labrum is a ring of fibrocartilage around the edge of the articular (joint) surface of a bone. The Latin ""labrum"" means ""lip."" The term is used generally to designate a lip, edge, or brim. Plural, labra." Acetabulum "The cup-shaped socket of the hip joint. In fact, in Latin an ""acetabulum"" is cup, a vinegar cup. The acetabulum is a feature of the pelvis. The head (upper end) of the femur (the thighbone) fits into the acetabulum and articulates with it, forming a ball-and-socket joint." Acetate A molecular ion derived from acetic acid. The formula of acetate is CH3COO-. Acetic acid The acid most commonly associated with vinegar. Acetic acid is a two-carbon carboxylic acid. Its formula is: CH3COOH. It is the most commercially important organic acid and is used in the manufacture of a broad range of chemical products, such as plastics and insecticides. We thank you for using the Medical Glossary to search for Aceruloplasminemia. If you have a better definition for Aceruloplasminemia than the one presented here, please let us know by making use of the suggest a term option. This definition of Aceruloplasminemia may be disputed by other professionals. Our attempt is to provide easy definitions on Aceruloplasminemia and any other medical topic for the public at large.
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