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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Dietary restriction is not indicated. The enzyme deficiency was demonstrated in liver by Schapira et al. The documents contained in this web site are presented for information purposes only. Views Read Edit View history.

Urine samples from the brother and 2 sisters showed intermittent fructosuria. Your contribution fructosugia be further edited by our staff, and its publication is subject to our final approval.


Please note that our fructosuriz may make some formatting changes or correct spelling or grammatical errors, and may also contact you if any clarifications are needed.

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 Eine seltene Form von Diabetes mellitus.

Other search option s Alphabetical list. If you prefer to suggest your own revision of the article, you can go to edit mode requires login. Learn More in these related Britannica articles: 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. From Wikipedia, the free encyclopedia.


Diagnosis and Treatment 5th ed. Fructosuris of liver metabolite concentrations fructosura adults with disorders of fructose metabolism after intravenous fructose by 31 P magnetic resonance spectroscopy.

Khachadurian described nonalimentary fructosuria in an month-old Arab boy who suffered from sickle-cell thalassemia. We need long-term secure funding to provide you the information that you need at your fingertips.

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 Sign up for our Demystified newsletter and get this free guide.

There are no other clinical manifestations or disabilities, and the condition is compatible with normal life expectancy. Only comments written in English can be processed.

Essential fructosuria

Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism see this term caused by a deficiency of fructokinaseenzyme activity. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

We are determined to keep this website freely accessible. While the OMIM database is open to the public, fructosuriia 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. You can make it easier for us to review and, hopefully, publish your contribution by keeping a few points in mind. In a well-characterized family in which 3 of 8 sibs had fructosuria Steinmann and Gitzelmann, ; Gitzelmann et al.


Using 31 P magnetic resonance spectroscopy to measure changes in liver metabolite concentrations in adults with fructosuria, Boesiger et al. Please consider making a donation now and again in the future.

Urine samples from both parents were negative for a reducing substance. Unfortunately, our editorial approach may not be able to accommodate all contributions. Laron counted 50 published cases, of which 18 were in Jews.

This page was last edited on 24 Aprilat By using this site, you agree to the Terms of Use and Privacy Policy. The Metabolic Basis of Inherited Disease. Essential fructosuria Fructose Classification and external resources Specialty endocrinology [ edit on Wikidata ]. 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.

Internet URLs are the best. The Editors of Encyclopaedia Britannica. Essential fructosuria is a genetic condition that is inherited in an autosomal recessive manner.

Glucose-galactose malabsorption Inborn errors of renal tubular transport Renal glycosuria Fructose malabsorption. We welcome suggested improvements to any of our articles. Thank You for Your Contribution! Retrieved from ” https: