Fructose is a simple sugar found primarily in fruits. Fructosuria definition at, a free online dictionary with pronunciation, synonyms and translation. Alimentary pentosuria can be acquired through fruits high in pentose. Information and translations of fructosuria in the most comprehensive dictionary definitions resource on the web. Ppt carbohydrate metabolism powerpoint presentation.
Fructosuria and recurrent hypoglycemia in a patient with a. This rare and benign error of metabolism was first described in 1876. Fructokinase c khkc has a very high affinity for fructose resulting in rapid phosphorylation with concomitant depletion in atp. Galactosemia is a rare genetic condition that prevents babies from processing galactose, an important sugar in breast milk. The following points highlight the top ten types of glycogen storage diseases.
Save powerpoint presentations as pdf files office support. Metabolism of non glucose sugars fructose glycolysis. Diagnosis is based on finding glucose in a 24h urine collection when the diet contains 50% carbohydrate in the absence of hyperglycemia serum glucose fructosuria, sucrosuria, maltosuria, galactosuria, and lactosuria, the glucose oxidase method should be used for all laboratory measurements. Mgv clinical biochemistry carbohydrate metabolism blood glucose homeostasis sources of glucose in the blood diet glycogenolysis breakdown of glycogen. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars sucrose, sorbitol. The fructosuria of this disease depends on the time and amount of fructose and sucrose intake. Convert and create pdf from various types of files like word doc, excel xls, powerpoint ppt. Finally, druginduced pentosuria can be developed by those exposed to morphine, fevers, allergies, and some hormones. Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism see this term caused by a deficiency of fructokinaseenzyme activity.
A diagnosis of essential fructosuria is typically made after a positive routine test for reducing sugars in the urine. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. The proportion of jews in the known and proven cases of this disorder is high, constituting 18 out of 50 cases. There are three inherited disorders of fructose metabolism that are recognized and characterized. Essential fructosuriahepatic fructokinase deficiency omim 229800. This free online converter allows to convert various file formats doc, docx, xls, ppt, jpg, png. This deficiency causes benign elevation of blood and urine fructose levels benign fructosuria. Fructosuria definition of fructosuria by medical dictionary. The clinical presentation of hfi may include hypoglycemia. If you have a bad reaction to a certain food, it may be an allergy or it could be a food intolerance. It is a less severe condition than hereditary fructose intolerance. This gene provides instructions for making a protein called dicarbonyl and lxylulose reductase dcxr, which plays multiple roles in the body.
A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. In fructosuria this particular enzyme is defective, and the concentration. Fructosuria, or essential fructosuria, is a disease where small amounts of fruit sugar fructose appear in the urine. Essential pentosuria is caused by mutations in the dcxr gene. Production of cellular energy and atp most frequently performed chemical analysis in urine detection and monitoring of. Essential fructosuria, hereditary fructose intolerance, and fructose1,6 diphosphatase deficiency. Fructosemia is a very serious condition, as fructose is converted into fructose1phosphate, using up atp. Hereditary fructose intolerance hfi is an autosomal recessive disorder characterized by a deficiency in fructose1phosphate aldolase aldolase b, which is important in both glycolysis and gluconeogenesis, and plays a critical role in the metabolism of fructose. Fructosuria, disturbance of fructose metabolism resulting from a hereditary disorder or intolerance.
Pdf essential fructosuria, hereditary fructose intolerance, and. Essential fructosuria, is a mild disorder not requiring treatment, while hereditary fructose intolerance hfi and. The condition is asymptomatic and diagnosed accidentally when a nonglucose reducing substance is detected in urine. Normally, fructose is first metabolized in the body to fructose1phosphate by a specific organic catalyst or enzyme called fructokinase. 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. Follow these instructions to set the print quality of the pdf. Fructose intolerance, hereditary nord national organization for. Hereditary fructose intolerance, fructosuria, fructose, hypoglycemia, aldolase b.
Pdf converter is a online webbased document to pdf converter software. Gitzelmann and others published essential fructosuria. Hereditary fructose intolerance, fructosuria, fructose, hypoglycemia. An intolerance means your body has a hard time digesting a food or an ingredient in it, such. Fructokinase a khka has very low affinity for fructose thus, exerting minimal effects on overall fructose metabolism and levels of atp.
Fructosuria and recurrent hypoglycemia in a patient with a novel c. A free powerpoint ppt presentation displayed as a flash slide show on id. Essential fructosuria is a benign metabolic disorder caused by the lack of fructokinase which is normally present in the liver, pancreatic islets and kidney cortex. Essential fructosuria, an autosomalrecessive disorder, is a benign, asymptomatic metabolic anomaly caused by the absence of fructokinase. Instantly convert text documents, presentations, spreadsheets and images to pdf format with this free online pdf converter. Though the disease can cause many issues, its easily diagnosed and. Pdf the diagnosis of hereditary fructose intolerance. 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 affects about 1 out of every,000 persons in the united states. Essential fructosuria, an autosomalrecessive disorder, is a benign, asymptomatic metabolic anomaly. Disorders of fructose metabolism the online metabolic and. Essential fructosuria is the condition caused by a deficiency in hepatic fructokinase, leading to fructose being excreted in the urine.
An additional test with glucose oxidase must also be carried out with a negative result indicating essential fructosuria as a positive test for reducing sugars is most often a result of glucosuria secondary to diabetes mellitus. Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically. Fructosuria symptoms, causes, diagnosis, treatments. Those diagnosed with pentosuria are predominantly of jewish root. One of its functions is to perform a chemical reaction that converts a sugar called lxylulose to a molecule called xylitol. In the powerpoint preferences dialog box, click general. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose. 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 excretion of 10 to 20% of the ingested load in the urine gitzelmann et al. Renal control mechanism the capacity of renal tubular system to reabsorb glucose is limited to a rate of about 350 mgmin known as tubular maximum for glucose tmg if the blood glucose level goes beyond 160 180 mgdl complete renal tubular reabsorption does not occur and so glucose appears in urine. The excretion of fructose in the urine is not constant, it depends. Essential fructosuria was first described independently by czapek 1876 and zimmer 1876 in a man who also suffered from. Sooad aldaihan biochemistry department fructose metabolism diets containing large amounts of sucrose a disaccharide of glucose and fructose can utilize the fructose as a major source of energy. Essential fructosuria is readily diagnosed by the ftt, but fructose1,6diphosphatase deficiency and hfi are not. Hereditary fructose intolerance is a condition that affects a persons ability to digest the sugar fructose.
The presence of fructose in the blood and urine may lead to an incorrect diagnosis of diabetes mellitus. Other than this unusual feature, people seem to generally tolerate the genetic difference well. Under print quality paper pdf, set the desired quality to an option of your choice. Renal glucosuria genitourinary disorders msd manual. However, it is a harmless defect, and no cure is needed. It is assumed that the pathogenesis of essential benign fructosuria is due to a congenital lack of. Hereditary fructose intolerance genetics home reference.
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