Fructosuria: Fructosuria,, disturbance of fructose metabolism resulting from a hereditary disorder or intolerance. Normally, fructose is first metabolized in the body. Full text. Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (K), or click on a page. A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Fructosuria.

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The excretion of fructose in the urine is not constant, it depends largely on dietary intake.

The Metabolic Basis of Inherited Disease. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of dructosuria and related sugars sucrose, sorbitol. Urine samples from both parents were negative for a reducing substance. Please try again later. Khachadurian described nonalimentary fructosuria in an month-old Arab boy who suffered from sickle-cell thalassemia.

Essential fructosuria is clinically asymptomatic and harmless. Fructtosuria fructosuria was first described independently by Czapek and Zimmer in a man who also suffered from diabetes mellitus. Disorders of fructose metabolism.

Any text you add should be original, not copied from other sources. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Molecular basis of essential fructosuria: From Wikipedia, the free encyclopedia. If you prefer to suggest your own revision of the article, you can go to edit mode requires login.


Orphanet: Essential fructosuria

Neither mutation was seen in a sample of 52 unrelated control individuals. This page fructoauria last edited on 24 Aprilat The documents contained in this web site are fructosuriw for information purposes only. This enzyme deficiency results in an accumulation of fructosephosphate, which inhibits the production of glucose and results in diminished regeneration of adenosine triphosphate.

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D ICD – Retrieved from ” https: The diagnosis of hereditary fructose intolerance. Health care resources frkctosuria this disease Expert centres Diagnostic tests 12 Patient organisations 35 Orphan drug s 0. Disaccharide catabolism Congenital alactasia Sucrose intolerance. Urine samples from the brother and 2 sisters showed intermittent fructosuria.

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.

Expert curators review the literature and organize it to facilitate your work. The incidence of essential fructosuria has been estimated at 1: Please consider making a donation now and again in the future.

The patient’s parents were first cousins. Using 31 P magnetic resonance spectroscopy to measure changes in liver metabolite concentrations in adults with fructosuria, Boesiger et al.

Essential fructosuria

Photosynthesis, the process by which green plants and certain other organisms transform light energy…. Contact our editors with your feedback. Both mutations resulted from a G-to-A transition, and each altered the same conserved region of the KHK protein.


Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism see this term frucrosuria by a deficiency of fructokinaseenzyme activity. Specialised Social Services Eurordis directory. Essential fructosuria is a genetic condition that is inherited in an autosomal recessive manner.

While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified fructoeuria for diagnosis and for answers to personal questions. Autosomal recessive disorders Inborn errors of carbohydrate metabolism.

Essential fructosuria – Wikipedia

For all other comments, please send your remarks via contact us. There was a problem with your submission. More About Fructosuria 1 reference found in Britannica articles Assorted References cause and description In metabolic disease: Learn More in these related Britannica articles: Keep Exploring Britannica Evolution. Hyperoxaluria Primary hyperoxaluria Pentosuria Aldolase A deficiency.

There are no other clinical manifestations or disabilities, and the condition is compatible with normal life expectancy. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Inborn error of carbohydrate metabolism: Essential fructosuriacaused by a deficiency of the enzyme hepatic fructokinaseis a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to its excretion in urine.