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Fanconi–Bickel Syndrome
Fanconi–Bickel syndrome is a form of glycogen storage disease named for Guido Fanconi and Horst Bickel, who first described it in 1949. It is associated with GLUT2 Glucose transporter 2 (GLUT2) also known as solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2) is a transmembrane carrier protein that enables protein facilitated glucose movement across cell membranes. It is the princi ..., a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes of the intestines, and enter the blood. The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature. References External links Inborn errors of carbohydrate metabolism Hepatology Muscular disorders {{endocrine-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glycogen Storage Disease
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glycolysis, glucose breakdown, typically in muscles and/or liver cells. GSD has two classes of cause: genetic and environmental. Genetic GSD is caused by any Inborn errors of carbohydrate metabolism, inborn error of carbohydrate metabolism (genetically defective enzymes or transport proteins) involved in these processes. In livestock, environmental GSD is caused by Substance intoxication, intoxication with the alkaloid castanospermine. However, not every inborn error of carbohydrate metabolism has been assigned a GSD number, even if it is known to affect the muscles or liver. For example, phosphoglycerate kinase deficiency (gene PGK1) has a myopathic form. Also, Fanconi–Bickel syndrome, Fanconi-Bickel syndrome (gene SLC2A2) and Danon disease (gene LAMP2) were declassed as GSDs d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Guido Fanconi
Guido Fanconi () (1 January 1892 – 10 October 1979) was a Swiss pediatrician. Biography Fanconi was born on 1 January 1892 in Poschiavo, a small village in the Canton of Grisons. Fanconi is regarded as one of the founders of modern pediatrics. He received his secondary school education in Zürich. In 1911, he began his medical training in Lausanne. In 1920, he entered the Kinderspital (Children's Hospital) of the University of Zurich, where, with the exception of one year, he remained for 45 years. Fanconi recognized the importance of biochemistry to clinical medicine. In 1929 he succeeded Emil Feer as professor of pediatrics and head of the Kinderspital. Under his direction, it became one of the most renowned children's hospitals in the world. There are several medical conditions named after Dr. Fanconi. In 1927 he described hereditary panmyelopathy with short stature and hyperpigmentation, better known as Fanconi anemia. In 1934 the first cases of cystic fibrosis of the panc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Horst Bickel
Horst Bickel (28 June 1918 – 1 December 2000) was a German medical doctor. With Guido Fanconi, he characterized Glycogen storage disease type XI in 1949. He was also involved in the development of treatments for phenylketonuria. In 1951, Bickel, Evelyn Hickmans and John Gerrard were persuaded by a persistent mother to help her daughter, Sheila, who was suffering from phenylketonuria. They created a diet that was low in phenylalanine and the daughter's condition improved. Despite Bickel’s contribution, his decision to discontinue Shiela’s treatment (even after knowing its effectiveness) caused her condition to worsen so much that she was moved out of her home into an institution for the rest of her life. Bickel, Gerrard and Hickmans were awarded the John Scott Medal John Scott Award, created in 1816 as the John Scott Legacy Medal and Premium, is presented to men and women whose inventions improved the "comfort, welfare, and happiness of human kind" in a significant way. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GLUT2
Glucose transporter 2 (GLUT2) also known as solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2) is a transmembrane carrier protein that enables protein facilitated glucose movement across cell membranes. It is the principal transporter for transfer of glucose between liver and blood Unlike GLUT4, it does not rely on insulin for facilitated diffusion. In humans, this protein is encoded by the ''SLC2A2'' gene. Tissue distribution GLUT2 is found in cellular membranes of: * liver (Primary) * pancreatic β cell (Primary in mice, tertiary in humans after GLUT1 and GLUT3) * hypothalamus (Not overly significant) * basolateral membrane of small intestine and apical GLUT2 is also suggested. * basolateral membrane of renal tubular cells Function GLUT2 has high capacity for glucose but low affinity (high ''K''M, ca. 15–20 mM) and thus functions as part of the "glucose sensor" in the pancreatic β-cells of rodents, though in human β-cells the ro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inborn Errors Of Carbohydrate Metabolism
Inborn errors of carbohydrate metabolism are inborn errors of metabolism that affect the catabolism and anabolism of carbohydrates. An example is lactose intolerance. Carbohydrates account for a major portion of the human diet. These carbohydrates are composed of three principal monosaccharides: glucose, fructose and galactose; in addition glycogen is the storage form of carbohydrates in humans. The failure to effectively use these molecules accounts for the majority of the inborn errors of human carbohydrates metabolism. By Carbohydrate Glycogen and Glucose Glycogen storage diseases are deficiencies of enzymes or transport proteins which impair glycogen synthesis, glycogen degradation or glycolysis. The two organs most commonly affected are the liver and the skeletal muscle. Glycogen storage diseases that affect the liver typically cause hepatomegaly and hypoglycemia; those that affect skeletal muscle cause exercise intolerance, progressive weakness and cramping. Gluco ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hepatology
Hepatology is the branch of medicine that incorporates the study of liver, gallbladder, biliary tree, and pancreas as well as management of their disorders. Although traditionally considered a sub-specialty of gastroenterology, rapid expansion has led in some countries to doctors specializing solely on this area, who are called hepatologists. Diseases and complications related to viral hepatitis and alcohol are the main reason for seeking specialist advice. More than two billion people have been infected with hepatitis B virus at some point in their life, and approximately 350 million have become persistent carriers. Up to 80% of liver cancers can be attributed to either hepatitis B or hepatitis C virus. In terms of Mortality rate, mortality, the former is second only to smoking among known agents causing cancer. With more widespread implementation of vaccination and strict Screening (medicine), screening before blood transfusion, lower infection rates are expected in the futur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
