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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Unfortunately, it is not free to produce. Essential fructosuria Fructose intolerance. Retrieved from ” https: Using 31 P magnetic resonance spectroscopy to measure changes in liver metabolite fructpsuria in adults with fructosuria, Boesiger et al. Disaccharide catabolism Congenital alactasia Sucrose intolerance. Clinical Synopsis Toggle Dropdown. Summary and related texts. There was a problem with your submission.


Changes of liver metabolite concentrations in adults ffructosuria disorders of fructose metabolism after intravenous fructose by 31 P magnetic resonance spectroscopy. Inborn error of carbohydrate metabolism: Essential fructosuria Fructose Classification and external resources Specialty endocrinology [ edit on Wikidata ].


Lasker documented autosomal recessive inheritance of essential fructosuria. Both the spleen and the liver were enlarged. Glucosephosphate dehydrogenase deficiency Transaldolase deficiency 6-phosphogluconate dehydrogenase deficiency. A diagnosis of essential fructosuria is typically made after a positive test for reducing substances in the urine.

Orphanet: Essential fructosuria

Laron counted 50 published cases, of which 18 were in Jews. Urine samples from both parents were negative for a reducing substance. 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. CC ]. For all other comments, please send your remarks via contact us.

This page was last edited on 24 Aprilat Only comments written in English can be processed. Disorders of fructose metabolism.

Disorders of carbohydrate metabolism. This enzyme deficiency results in an accumulation of fructosephosphate, which inhibits the production of glucose and results in diminished regeneration of adenosine triphosphate.

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

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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. Photosynthesis, the process by which green plants and certain other organisms transform light energy….


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Learn More in these related Britannica articles: Molecular basis of essential fructosuria: D ICD – There are no other clinical manifestations or disabilities, and the condition is compatible with normal life expectancy.

The Editors of Encyclopaedia Britannica. From Wikipedia, the free encyclopedia. Ffuctosuria enzyme deficiency was demonstrated in liver by Schapira et al. Check this box if you wish to receive a copy of your message. Health care resources for this disease Expert centres Diagnostic tests 12 Patient organisations 35 Orphan drug s 0. La lesion enzymatique de la fructosurie benigne. 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 Contact our editors with your feedback.