FRUCTOSURIA PDF

Essential fructosuria was first described independently by Czapek and Zimmer in a man who also suffered from diabetes mellitus. Laron counted 50 published cases, of which 18 were in Jews. The enzyme deficiency was demonstrated in liver by Schapira et al. Khachadurian described nonalimentary fructosuria in an month-old Arab boy who suffered from sickle-cell thalassemia. The fructose tolerance test was normal and fructosuria persisted after fructose was entirely excluded from the diet, but had decreased markedly when the patient was seen 2 years later.

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Essential fructosuria was first described independently by Czapek and Zimmer in a man who also suffered from diabetes mellitus. Laron counted 50 published cases, of which 18 were in Jews. The enzyme deficiency was demonstrated in liver by Schapira et al. Khachadurian described nonalimentary fructosuria in an month-old Arab boy who suffered from sickle-cell thalassemia.

The fructose tolerance test was normal and fructosuria persisted after fructose was entirely excluded from the diet, but had decreased markedly when the patient was seen 2 years later. Both the spleen and the liver were enlarged. Urine samples from both parents were negative for a reducing substance. Urine samples from the brother and 2 sisters showed intermittent fructosuria. Small amounts of fructose occur in the urine of normal individuals ingesting a regular diet but amounts sufficient to give a positive test for reducing sugar in the routine examination occur only in essential fructosuria, familial fructose intolerance, and advanced liver disease.

Using 31 P magnetic resonance spectroscopy to measure changes in liver metabolite concentrations in adults with fructosuria, Boesiger et al. Both mutations resulted from a G-to-A transition, and each altered the same conserved region of the KHK protein.

Neither mutation was seen in a sample of 52 unrelated control individuals. Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31 P magnetic resonance spectroscopy. Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase fructokinase. Eine seltene Form von Diabetes mellitus.

Prager Med. Gitzelmann, R. Disorders of fructose metabolism. In: Scriver, C. New York: McGraw-Hill pub. Khachadurian, A. Nonalimentary fructosuria. Letter Pediatrics , Essential benign fructosuria. Essential fructosuria. Schapira, F. La lesion enzymatique de la fructosurie benigne. Steinmann, B. The diagnosis of hereditary fructose intolerance.

Acta , Levulose im Harn eines Diabetikers. Creation Date:.

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Fructosuria

Cause[ edit ] Essential fructosuria is a genetic condition that is inherited in an autosomal recessive manner. The incidence of essential fructosuria has been estimated at , Diagnosis[ edit ] A diagnosis of essential fructosuria is typically made after a positive routine test for reducing sugars in the urine. An additional test with glucose oxidase must also be carried out with a negative result indicating essential fructosuria as a positive test for reducing sugars is most often a result of glucosuria secondary to diabetes mellitus.

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