Renal glucosuria is asymptomatic and without serious sequelae. However, if there is an associated generalized defect in proximal tubular function, symptoms and signs may include. Essential fructosuria was first described independently by czapek 1876 and zimmer 1876 in a man who also suffered from diabetes mellitus. There are many known mutations in the aldob gene that cause hereditary fructosuria. There are three inherited disorders of fructose metabolism that are recognized and characterized. All structured data from the file and property namespaces is available under the creative commons cc0 license. Erythrocytes of 3 adult siblings with essential fructosuria contained 45200 mumoll fructose 3phosphate fru3p, i. Finally, druginduced pentosuria can be developed by those exposed to morphine, fevers, allergies, and some hormones. They are classified based on the functional group attached to the carbohydrate. Other than this unusual feature, people seem to generally. Essential fructosuria, is a mild disorder not requiring treatment. Information and translations of fructosuria in the most comprehensive dictionary definitions resource on the web.
Kilenc j szerepl tnt fel a leggazdagabb magyar listjn, azonban igazi nagy vltozs nem lthat a mlt vhez viszonytva. Following dietary exposure to fructose, sucrose, or sorbitol, untreated hereditary fructose intolerance hfi is characterized by metabolic disturbances hypoglycemia, lactic acidemia. It is a less severe condition than hereditary fructose. Sokatch, in bacterial physiology and metabolism, 1969. The incidence of essential fructosuria has been estimated at 1. Oct 01, 2015 essential fructosuria is a rare autosomal recessive disorder of fructose metabolism see this term caused by a deficiency of fructokinaseenzyme activity. Production of cellular energy and atp most frequently performed chemical analysis in urine detection and monitoring of. However, it is a harmless defect, and no cure is needed. Mutations in the khk gene, located on chromosome 2p23. May 22, 2015 essential fructosuria caused by a deficiency of the enzyme hepatic fructokinase is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to its. Other than this unusual feature, people seem to generally tolerate the genetic difference well. Information and translations of fructosuria in the most comprehensive. Monosaccharides are the fundamental units of carbohydrates which cannot be further reduced to simpler compounds.
Fructosuria is a rare hereditary disorder transmitted as an autosomalrecessive trait. Production of cellular energy and atp most frequently performed chemical. Those diagnosed with pentosuria are predominantly of jewish root. Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism see this term caused by a deficiency of fructokinaseenzyme activity. Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to. Laron 1961 counted 50 published cases, of which 18 were in jews.
Fructosuria affects about 1 out of every,000 persons in the united states. Normally, fructose is first metabolized in the body to fructose1phosphate by a. Fructose transport, degradation, and biosynthesis see online here fructose is a carbohydrate that naturally occurs in fruits and is in the form of sucrose, included in many other foods. A very sweet monosaccharide sugar, c6h12o6, occurring in many fruits and in honey, and used as a preservative for foodstuffs and as an intravenous nutrient. Fructosuria, or essential fructosuria, is a disease where small amounts of fruit sugar fructose appear in the urine. Essential fructosuria caused by a deficiency of the enzyme hepatic fructokinase is a clinically benign condition characterized by the incomplete metabolism of fructose in the. Ratings 100% 5 5 out of 5 people found this document helpful. All structured data from the file and property namespaces is. Normally, fructose is first metabolized in the body to fructose1phosphate by a specific organic catalyst or enzyme called fructokinase. To see if you have it, your doctor may ask you to take dairy out of your diet for a couple of weeks to see if you feel better. Following dietary exposure to fructose, sucrose, or sorbitol, untreated hereditary fructose intolerance hfi is characterized by metabolic disturbances hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia, hyperalaninemia and clinical findings nausea, vomiting, and abdominal distress.
While congenital disorders of the fructose metabolism and fructose intolerance are relatively rare, numerous. It is a less severe condition than hereditary fructose intolerance. An aldose is a carbohydrate which contains an aldehyde group and ketose contains a ketonic group. Alimentary pentosuria can be acquired through fruits high in pentose. However, if there is an associated generalized defect in proximal tubular function, symptoms and signs may include hypophosphatemic rickets, volume depletion, short stature, muscle hypotonia, and ocular changes of cataracts or glaucoma oculocerebrorenal syndrome or kayserfleischer rings wilson disease. A very sweet monosaccharide sugar, c6h12o6, occurring in many fruits and in honey, and used as a preservative for foodstuffs and. Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine summary by bonthron et al. In individuals with essential fructosuria, ingestion of dietary fructose, sucrose, or sorbitol is followed by an abnormally large and persistent rise in blood fructose concentration and by. Fructosuria medigoo health medical tests health medical. Files are available under licenses specified on their description page. Finally, druginduced pentosuria can be developed by those exposed to morphine, fevers, allergies, and some. Essential fructosuria is the condition caused by a deficiency in hepatic fructokinase, leading to fructose being excreted in the urine. Fructosemia definition of fructosemia by medical dictionary. The proportion of jews in the known and proven cases of this disorder is high, constituting 18 out of 50 cases.
The proportion of jews in the known and proven cases of this disorder is. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars sucrose, sorbitol. Essential fructosuria genetic and rare diseases information. Fructosuria definition of fructosuria by medical dictionary. Fructosuria symptoms, causes, diagnosis, treatments. The presence of fructose in the blood and urine may lead to an incorrect diagnosis of diabetes mellitus. It is assumed that the pathogenesis of essential benign fructosuria is due to a congenital lack of. Essential fructosuria is a genetic condition that is inherited in an autosomal recessive manner. Fructose definition of fructose by the free dictionary. Essential fructosuria definition of essential fructosuria. The topic hereditary fructosuria disorder you are seeking is a synonym, or alternative name, or is closely related to the medical condition hereditary fructose intolerance. Fructosuria medical definition merriamwebster medical. Pdf essential fructosuria, hereditary fructose intolerance. Fructosuria definition at, a free online dictionary with pronunciation, synonyms and translation.
The actual incidence is likely higher, because those affected are asymptomatic. Essential fructosuria, hereditary fructose intolerance, and fructose1,6diphosphatase deficiency article pdf available january 1983 with 4,796 reads how we measure reads. Essential fructosuria, is a mild disorder not requiring treatment, while hereditary fructose intolerance hfi and hereditary fructose1,6biphosphatase deficiency hfbp are treatable and controllable but must be taken seriously. Fructosuria, disturbance of fructose metabolism resulting from a hereditary disorder or intolerance.
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