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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Inhibition of fructose 1,6-bisphosphatase reduces excessive endogenous glucose production and attenuates hyperglycemia in zucker diabetic fatty rats. In individuals with essential fructosuria, ingestion of dietary fructose, sucrose, or sorbitol is followed by an abnormally large and persistent rise in blood fructose. Additionally, rare diseases are often more extreme and have a more straightforward etiology than their common counterparts and, therefore, provide models of disease that are easier to study.

Normally, fructosuria is first metabolized in the body to fructosephosphate by a specific organic catalyst or enzyme called fructokinase. All ages; Age of death: 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 [ 1fructosuriq ]. Glucose-galactose malabsorption Inborn errors of renal tubular transport Renal glycosuria Fructose malabsorption.

Received Feb 24; Accepted Mar Metabolic disturbances seem to diminish with increasing age and adult patients are more tolerant of catabolic stressors, as well as sugar intake sorbitol, fructose, or glycerol ingestionwith the exception of pregnancy, which is a serious risk factor for metabolic decompensation, due to its increased glucose requirements.

Essential fructosuriacaused by a deficiency of the enzyme hepatic fructokinase esfncial, is a clinically benign condition characterized by the incomplete metabolism of fructose in the frhctosuria, leading to its excretion in urine. Prognosis is excellent and recovery within a few days after fructose eviction. Hypoglycemia in infants and children.


D ICD – Future IEM research can yield important insight into more common conditions. However the strength of evidence for the association between fructose consumption and risk of gout was low, meaning that further prospective studies are needed to conclude on which extent fructose may mediate the risk of hyperuricemia and gout [ 3132 ].

This page was last edited on 24 Aprilat Both mutations resulted from a G-to-A transition, and each altered the same conserved region of the KHK protein. Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31p magnetic resonance spectroscopy.

In hypoxic conditions, such as shock or severe trauma, IV fructose may cause a massive unregulated flux of metabolites through glycolysis and fatal lactic acidosis [ 16 ]. Please consider making a donation now and again in the future. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.


Lasker documented autosomal recessive inheritance of essential fructosuria. The loss of fructose into the urine in this condition illustrates well the fact that fructose, having escaped hepatic metabolism, is poorly metabolized in extrahepatic tissues. Lasker documented autosomal recessive inheritance of essential fructosuria. All melituria is not glucosuria.

Essential fructosuria Fructose Classification and external resources Specialty endocrinology [ edit on Wikidata ]. Sorbitol, widely distributed in fruits and vegetables, is converted to fructose in the liver by sorbitol dehydrogenase. Fructokinase deficiency Ketohexokinase deficiency Prevalence: Open in a separate window.


Molecular basis of essential fructosuria: Neither mutation was seen in a sample of 52 unrelated control individuals. These apparently minor metabolic variations, however, have profound metabolic consequences, as discussed further.

We need long-term secure funding to provide you the information that you need at your fingertips. Study of hereditary fructose intolerance by use of 31p magnetic resonance spectroscopy. Thus, the intermediary metabolites of fructose enter glycolysis and the Krebs cycle as triose phosphates.


Urine samples from both parents were negative for a reducing substance. In fructosuria this particular enzyme is defective, and the concentration of fructose increases in the blood and urine. Three inborn errors are known in the pathway of fructose metabolism; 1 essential or benign fructosuria due to fructokinase deficiency; 2 hereditary fructose intolerance HFI ; and 3 fructose-1,6-bisphosphatase FBPase deficiency.

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 Few studies have examined the effect of fructose ingestion in heterozygotes subject for HFI.

Essential fructosuria

Metabolism at a Glance. Metabolic effects of fructose and the worldwide increase in obesity. A potential role for muscle in glucose homeostasis: Journal List Nutrients v. Normally, fructose is first metabolized in the body.

In animal models of type 2 diabetes, inhibition of FBPase effectively lowers endogenous glucose formation without causing hypoglycemia [ 45 ]. Heterozygotes appear to excrete no frudtosuria fructose after an oral load than normal subjects [ 22 ].