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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Thank You for Your Contribution! Disorders of carbohydrate metabolism. Urine samples from both parents were negative for a reducing substance. Help us improve this article! We welcome suggested improvements to any of our articles.

TEXT A number sign is used with this entry because of evidence that essential fructosuria is caused by compound heterozygous mutation in the KHK gene on chromosome 2p Other search option s Alphabetical list. 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.

For all other comments, please send your remarks via contact us. Thank you for your feedback. The incidence of essential fructosuria has been estimated at 1: Only comments written in English can be processed.

Disorders of fructose metabolism. CC ]. Please consider making a donation now and again in the future.

Essential fructosuria – Wikipedia

Ftuctosuria excretion of fructose in the urine is not constant, it depends largely on dietary intake. You may find it helpful to search within the site to see how similar or related subjects are covered. The diagnosis of hereditary fructose intolerance. Essential fructosuria was first described independently by Czapek and Zimmer in a man who also suffered from diabetes mellitus.



This page was last edited on 24 Aprilat Sign up for our Demystified newsletter and get this free guide. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Please note that our editors may make some formatting changes or correct spelling or grammatical errors, and may also contact you if any clarifications are needed. Khachadurian described nonalimentary fructosuria in an month-old Arab boy who suffered from sickle-cell thalassemia. 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 physician for diagnosis and for answers to personal questions.

Hyperoxaluria Primary hyperoxaluria Pentosuria Aldolase A deficiency. Clinically, patients with hereditary fructose intolerance are much more severely affected than those with essential fructosuria, with elevated uric acidgrowth abnormalities and can result in coma if untreated.

Disaccharide catabolism Congenital alactasia Sucrose intolerance.

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Dietary restriction is not indicated. Molecular basis of essential fructosuria: Keep Exploring Britannica Evolution. Hereditary fructose intoleranceor the presence of fructose in the blood fructosemiais caused by a deficiency of aldolase Bthe second enzyme involved in the metabolism of fructose.

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Orphanet: Essential fructosuria

Photosynthesis, the process by which green plants and certain other organisms transform light energy…. Eine seltene Form von Diabetes mellitus. Both mutations resulted from a G-to-A transition, and each altered the same conserved region of the KHK protein. Please try fructpsuria later. Diagnosis and Treatment 5th ed. Inborn error of carbohydrate metabolism: A diagnosis of essential fructosuria is typically made after a positive test for reducing substances in the urine.

Essential fructosuria

Your contribution may be further edited by our staff, and its publication is subject to our final approval. The patient’s parents were first cousins.

Evolution, theory in biology postulating that the various types of plants, animals, and other living…. Learn More in these related Britannica articles: Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31 P magnetic resonance spectroscopy.

Clinical Ffuctosuria Toggle Dropdown. Essential fructosuria is clinically asymptomatic and harmless. Autosomal recessive disorders Inborn errors of carbohydrate metabolism.

Lasker documented autosomal recessive inheritance of essential fructosuria.

Disease definition Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism see this term caused by a deficiency of fructokinaseenzyme activity.