National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Fructosuria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Essential Fructosuria
- Hepatic Fructokinase Deficiency
- Ketohexokinase Deficiency
Fructosuria is a rare but benign inherited metabolic disorder. It is characterized by the excretion of fruit sugar (fructose) in the urine. Normally, no fructose is excreted in the urine. This condition is caused by a deficiency of the enzyme fructokinase in the liver. This enzyme is needed for the synthesis of glycogen (the body's form of stored energy) from fructose. The presence of fructose in the blood and urine may lead to an incorrect diagnosis of diabetes mellitus.
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 9/17/2007
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