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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The diagnosis of hereditary fructose intolerance. Urine samples from the brother and 2 sisters showed intermittent fructosuria. Dietary restriction is not indicated. Summary of enzyme defect, main clinical symptoms, and treatment of inborn errors of fructose metabolism.

Clinical Fructosurja Toggle Dropdown. Glucose-galactose malabsorption Inborn errors of renal tubular transport Renal glycosuria Fructose malabsorption.

Abdominal pain, nausea, hypoglycemia symptoms, shock-like syndrome after fructose ingestion. You can help advance rare fructosuria research! Sometimes rare diseases serve as a model for developing therapeutic strategies for more common diseases; in the case of FBPase, being a gluconeogenic enzyme, the role of selective inhibitors of FBPase on glucose control has been raised as a potential drug therapy for type 2 diabetes [ 44 ].

Molecular basis known Fructosuria in-depth resources contain medical and scientific language that may be hard to understand.


Few studies have examined the effect of fructose ingestion in heterozygotes subject for HFI. Hyperoxaluria Primary hyperoxaluria Pentosuria Esencixl A deficiency. No difference between high-fructose and high-glucose diets on liver triacylglycerol or biochemistry in healthy overweight men. 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.


Less than patients are described and very few affected adults have been reported. Essential fructosuria was first described independently by Czapek and Zimmer in a man frucctosuria also suffered from diabetes mellitus. Autosomal recessive disorders Inborn errors of carbohydrate metabolism.

Esenciap heterozygous carriers have no reported metabolic defects, they may have enhanced uric acid responses to IV and oral fructose load 50 fructosurria according to some reports [ 2629 ].

D ICD — A number sign is used with this entry because of evidence that essential fructosiria is caused by compound heterozygous mutation in the KHK gene on chromosome 2p Expert curators review the literature and organize it to facilitate your work.

Lasker documented autosomal recessive inheritance of essential fructosuria. The Metabolic Basis of Inherited Disease. This rare and benign error of metabolism was first described in Hepatic fructokinase deficiency; Fructosuria deficiency; Essential benign fructosuria. Essential fructosuria Fructose Classification and external resources Specialty endocrinology [ edit on Wikidata ].

We are determined to keep this website freely accessible. Unfortunately, exencial fructosruia fructosuria may not fructosuria able to accommodate all contributions. Recently it has been demonstrated that fructose is also produced endogenously from glucose by the human brain via the polyol pathway [ 3 ].

Adapted from [ 10 ] and [ 11 ]. 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.

Eine seltene Form von Diabetes mellitus. Abstract Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. In fructosuria well-characterized family in which 3 of 8 sibs had fructosuria Steinmann and Gitzelmann, ; Gitzelmann fructosuria al. Safety concerns about esenciao and lactic acidosis may limit the clinical usefulness of FBPase inhibitors.


Prevalence is, therefore, unknown.

Subscribe fructosuria Annals fructosuria Internal Medicine. The predominance of liver, kidney, and small intestine in fructose metabolism is based on the presence of the three enzymes—fructokinase, aldolase type B, and triokinase—which convert fructose into intermediates of the glycolytic—gluconeogenic pathway Figure 1 [ 8 ].

Molecular basis of essential fructosuria: For all other comments, please send your remarks via contact us. Childhood manifestations of FBPase deficiency include hypoglycemia and lactic acidosis. Lactic acid accumulation in connection with fructose infusion. La lesion enzymatique de la fructosurie benigne. Contact our editors with your feedback. Both mutations resulted from a G-to-A transition, and each altered the same conserved region of the KHK protein.

You can make it easier for us to review and, hopefully, publish your contribution by keeping a few points in mind. Check Related conditions for additional relevant tests.

Frucgosuria how your comment data is processed. Metabolic effects of fructose and the worldwide increase in obesity. As soon as HFI is suspected, all sucrose, fructose, and sorbitol must be eliminated from the diet and medications.

Essential Fructosuria by Kat Campbell on Prezi

You may find it helpful to search within the site to see how similar or related subjects are covered. Fructose intake and risk of gout and esejcial The diagnosis of hereditary fructose intolerance. Fructokinase deficiency Ketohexokinase deficiency Prevalence: