Genetic transport disease
- Genetic transport disease
- Within the body, many molecules are able to pass across the membranes that surround cells. These molecules can accomplish this feat due to specific transport systems. These systems include special receptors on the membrane of the cell and special carrier proteins. The receptor recognizes the molecule and receives it on the cell membrane. Then the molecule hitches a ride through the cell membrane on the back of a carrier protein. With such remarkable specificity, it is little wonder that sometimes there are defects in transport systems. Several dozen different diseases are now known to be due to transport defects. Am example of a transport disease is cystinuria, the most common defect known in the transport of an amino acid (namely, cystine) and a significant cause of kidney stones. Like cystinuria, all transport defects are genetic (inherited).
Medical dictionary.
2011.
Look at other dictionaries:
Transport disease, cystine — Commonly known as cystinuria, this is an inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine. The result is an excess of cystine in the urine (cystinuria) and the formation of cystine stones … Medical dictionary
Cystine transport disease — Commonly known as cystinuria, this is an inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine resulting in an excess of cystine in the urine (cystinuria) and the formation of cystine stones.… … Medical dictionary
Transport defect — Within the body, many molecules are able to pass across the membranes that surround cells. These molecules can accomplish this feat due to specific transport systems. These systems include special receptors on the membrane of the cell and special … Medical dictionary
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… … Medical dictionary
Disease, cystine transport — Commonly known as cystinuria, this is an inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine resulting in an excess of cystine in the urine (cystinuria) and the formation of cystine stones.… … Medical dictionary
Disease, Charcot-Marie-Tooth — A neuromuscular disease that is the most common inherited disorder of peripheral nerves, characterized by progressively debilitating weakness. The disease is also called peroneal muscular atrophy. The foremost feature of Charcot Marie Tooth… … Medical dictionary
human disease — Introduction an impairment of the normal state of a human being that interrupts or modifies its vital functions. health versus disease Before human disease can be discussed, the meanings of the terms health, physical fitness, illness … Universalium
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
Tay-Sachs disease — Infobox Disease Name = Tay Sachs disease Caption = DiseasesDB = 12916 ICD10 = ICD10|E|75|0|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = 272800 OMIM mult = OMIM2|272750 MedlinePlus = 001417 eMedicineSubj = ped eMedicineTopic = 3016 MeshID = D013661 Tay… … Wikipedia
digestive system disease — Introduction any of the diseases that affect the human digestive tract. Such disorders may affect the esophagus, stomach, small intestine, large intestine (colon), pancreas, liver, or biliary tract. A prevalent disorder of the digestive… … Universalium
