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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Levulose im Harn fructosuria Diabetikers. 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. D ICD fructousria While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.

You may want to review these resources with a fructosuria professional. Inborn errors of fructose metabolism are summarized in Table 1. Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine summary by Bonthron et al.

Because of the high activity of fructokinase, intake of fructose results in accumulation of FP and the trapping of phosphate.

esnecial Full text is available as a scanned copy of the original print version. The documents contained in this web site are presented for information purposes only. A secure and noninvasive alternative to liver biopsy. Using 31 P magnetic resonance spectroscopy to measure changes in liver metabolite concentrations in adults with fructosuria, Boesiger et al.


This table lists symptoms that people fructosuria this disease may have. Disaccharide catabolism Congenital alactasia Sucrose intolerance.


From Wikipedia, the free encyclopedia. Abdominal pain, nausea, hypoglycemia symptoms, shock-like syndrome after fructose ingestion. Patients with HFI only develop symptoms when they are exposed to fructose either as the monosaccharide, or in sucrose or sorbitol. Fructose is almost exclusively derived from the diet. Please note that our editors may make some formatting changes or correct spelling or grammatical errors, and may also contact you if any clarifications are needed.

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.

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.

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

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. Tips for Finding Financial Aid.

In fructosuria this particular enzyme is defective, and the concentration of fructose increases in the blood and urine. The ftuctosuria toxic effects of fructose in healthy humans also are discussed: Clinical Synopsis Toggle Dropdown. Autosomal recessive disorders Inborn errors of carbohydrate metabolism.

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

Nevertheless some controversies exist on how, and to what extent, those changes alter cardiovascular risk [ 18 ]. Dietary fructose consumption among us children and adults: Fructosuria, disturbance of fructose metabolism resulting from a hereditary disorder or intolerance.

Essential Benign Fructosuria

Unfortunately, it is not free to produce. Infants become symptomatic when they are dependent on GNG within the first weeks of life [ 36 ]. The genetic consequences of our sweet tooth.


Learn how your comment data is processed. Hepatic fructokinase deficiency; Fructosuria deficiency; Essential benign fructosuria.

Normally, fructose is first metabolized in the body. Diagnosis of HFI is suspected from a detailed nutritional history and the clinical picture. La lesion enzymatique de la fructosurie benigne. La lesion enzymatique de la fructosurie benigne.

Get a printable copy PDF file of the complete article Kor click on a page. Dietary restriction is not indicated. Essential fructosuria Fructose Classification and external resources Specialty endocrinology [ edit on Wikidata ]. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Safety concerns about hypoglycemia and lactic acidosis may limit the clinical usefulness of FBPase inhibitors.

Both fructose and glucose can be degraded into triose-phosphate and lactate and, thus, yield glycolytic intermediates. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will fructosuria show symptoms.

Vomiting, diarrhea, abdominal pain, hypoglycemia, hepatomegaly, jaundice, and renal failure can ensue. Molecular basis of essential fructosuria: Adapted from [ 10 ] and [ 11 ]. Diagnosis and Treatment 5th ed. Contact our editors with your feedback. Fructose, a member of a group fructosuria carbohydrates known as simple sugars, or monosaccharides. Table 1 Summary of enzyme defect, main clinical symptoms, and treatment of inborn errors of fructose metabolism.