CANTONI M, KLINGER R. Sulla levulosuria essenziale infantile; a proposito di un caso clinico. Minerva Med. Mar 31;48(26)– [PubMed]. Three inborn errors are known in the pathway of fructose metabolism; (1) essential or benign fructosuria due to fructokinase deficiency;. Essential fructosuria is a benign inborn error of metabolism characterized by an inability to utilize fructose completely (Hsia, ). It was first described in

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Retrieved from ” https: We need long-term secure funding to provide you the information that you need at your fingertips. 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.

Aldolase-b knockout in mice phenocopies hereditary fructose intolerance in humans. Recently a meta-analysis of prospective cohorts studies investigating total fructose consumption and its association with incident hyperuricemia and gout concluded with a significant overall association.

You will be directed to fructosuria. La lesion enzymatique de la fructosurie benigne.

Essential fructosuria

Disorders of fructose metabolism. 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.

Congenital alactasia Sucrose intolerance. By using this site, you agree to the Terms of Use and Privacy Policy. Clinical Synopsis Toggle Dropdown. Infants become symptomatic when they are dependent on GNG frucctosuria the first weeks of life [ 36 ]. 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.


A systematic review and meta-analysis of prospective cohort studies. Glucose-galactose malabsorption Inborn errors of renal tubular transport Renal glycosuria Fructose malabsorption.

Sorbitol, widely distributed in fruits and vegetables, is converted to fructose in the liver by sorbitol dehydrogenase. Description, Causes and Risk Factors: Introduction People in developed countries may ingest up to 50 to g fructose equivalents daily in their diet and the use of this sugar in foods and drinks is increasing globally [ 12 ]. Any text you add should be original, not copied from other sources. fructoeuria


Only comments written in English can be processed. Eine seltene Form von Diabetes mellitus. Urine samples from both parents were negative for a reducing substance. Prognosis is excellent as long as metabolic decompensation is prevented by avoidance of prolonged fasting, as well as fructose and sucrose restriction in the diet.

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Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31 P magnetic resonance spectroscopy.

This article has been cited by other articles in PMC. Normally, fructose esencixl first metabolized in the esenical. The disorder is caused by the inherited deficiency of fructokinase. However, glucose can enter muscle and adipose tissue in the absence of insulin albeit in very small quantities. Essential fructosuria is a genetic condition that is inherited in an autosomal recessive manner.

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Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. Metabolism at a Glance. Exogenous fructose is absorbed through glucose transport proteins GLUT 5 fructoosuria 2 across the intestinal epithelium and is metabolized mainly in the liver by the enzymes fructokinase, aldolase B, and triokinase.

After the discovery of HFI, fructose toxicity was thought to be limited to individuals with the aldolase B defect.

By using this site, you agree to the Terms of Use and Privacy Policy. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars sucrose, sorbitol.

Inborn Errors of Fructose Metabolism. What Can We Learn from Them?

Metabolic effects of fructose and the worldwide increase in obesity. Disorders of fructose metabolism; pp. Diagnosis of HFI is frucgosuria from a detailed nutritional history and the clinical picture.

All melituria is not glucosuria. Fructose toxicity is not only limited to the IV route as, orally, fructose consumption can also be deleterious when consumed in large quantities in the daily diet. Check Related conditions for additional relevant tests. For all other comments, please send your remarks via contact us.

Urine samples from the brother and 2 sisters showed intermittent fructosuria. This article is an open access esenciall distributed under the terms and conditions of the Creative Commons Attribution CC BY license http: