出典: meddic
「the presence of levulose is the urine; "fructosuria is a harmless condition"」
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/13 15:59:12」(JST)
[Wiki en表示]
| Essential fructosuria |
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Fructose
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| Classification and external resources |
| ICD-10 |
E74.1 |
| ICD-9 |
271.2 |
| OMIM |
229800 |
| DiseasesDB |
5001 |
Essential fructosuria caused by a deficiency of the enzyme hepatic fructokinase is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to its excretion in urine.[1] Fructokinase (sometimes called ketohexokinase) is the first enzyme involved in the degradation of fructose to fructose-1-phosphate in the liver.[2] This defective degradation does not cause any clinical symptoms, fructose is either excreted unchanged in the urine or metabolized to fructose-6-phosphate by alternate pathways in the body, most commonly by hexokinase in adipose tissue and muscle.[1]
Essential fructosuria is a genetic condition that is inherited in an autosomal recessive manner.[2] Mutations in the KHK gene, located on chromosome 2p23.3-23.2 are responsible. The incidence of essential fructosuria has been estimated at 1:130,000. The actual incidence is likely higher, because those affected are asymptomatic. A diagnosis of essential fructosuria is typically made after a positive test for reducing substances in the urine. The excretion of fructose in the urine is not constant, it depends largely on dietary intake.[1]
No treatment is indicated for essential fructosuria, while the degree of fructosuria depends on the dietary fructose intake, it does not have any clinical manifestations.[1] The amount of fructose routinely lost in urine is quite small.[3] Other errors in fructose metabolism have greater clinical significance. Hereditary fructose intolerance, or the presence of fructose in the blood (fructosemia), is caused by a deficiency of aldolase B, the second enzyme involved in the metabolism of fructose. This enzyme deficiency results in an accumulation of fructose-1-phosphate, which inhibits the production of glucose and results in diminished regeneration of adenosine triphosphate. Clinically, patients with hereditary fructose intolerance are much more severely affected than those with essential fructosuria, with elevated uric acid, growth abnormalities and can result in coma if untreated.[1]
References
- ^ a b c d e Steinmann, Beat; Santer, Rene (2012). "Disorders of Fructose Metabolism". In Saudubray, Jean-Marie; van den Berghe, Georges; Walter, John H. Inborn Metabolic Diseases: Diagnosis and Treatment (5th ed.). New York: Springer. pp. 157–165. ISBN 978-3-642-15719-6.
- ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 229800
- ^ Anesthesia and Uncommon Diseases, Third Edition, Katz, Benumof and Kadis, 1999
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Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)
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|
Sucrose, transport
(extracellular) |
| Disaccharide catabolism |
- Lactose intolerance
- Sucrose intolerance
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| Monosaccharide transport |
- Glucose-galactose malabsorption
- Inborn errors of renal tubular transport (Renal glycosuria)
- Fructose malabsorption
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|
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| Hexose → glucose |
| Monosaccharide catabolism |
| fructose: |
- Essential fructosuria
- Fructose intolerance
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| galactose/galactosemia: |
- GALK deficiency
- GALT deficiency/GALE deficiency
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| Glucose ⇄ glycogen |
| Glycogenesis |
- GSD type 0, glycogen synthase
- GSD type IV, Andersen's, branching
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| Glycogenolysis |
| extralysosomal: |
- GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase
- GSD type III, Cori's, debranching
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|
- lysosomal/LSD: GSD type II, Pompe's, glucosidase
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|
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| Glucose ⇄ CAC |
| Glycolysis |
- MODY 2/HHF3
- GSD type VII, Tarui's, phosphofructokinase
- Triosephosphate isomerase deficiency
- Pyruvate kinase deficiency
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| Gluconeogenesis |
- PCD
- Fructose bisphosphatase deficiency
- GSD type I, von Gierke, glucose 6-phosphatase
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| Pentose phosphate pathway |
- Glucose-6-phosphate dehydrogenase deficiency
- Transaldolase deficiency
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| Other |
- Hyperoxaluria
- Pentosuria
- Aldolase A deficiency
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Index of inborn errors of metabolism
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|
| Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
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|
| Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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| Treatment |
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UpToDate Contents
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英文文献
- Structures of alternatively spliced isoforms of human ketohexokinase.
- Trinh CH1, Asipu A, Bonthron DT, Phillips SE.
- Acta crystallographica. Section D, Biological crystallography.Acta Crystallogr D Biol Crystallogr.2009 Mar;65(Pt 3):201-11. doi: 10.1107/S0907444908041115. Epub 2009 Feb 20.
- A molecular understanding of the unique aspects of dietary fructose metabolism may be the key to understanding and controlling the current epidemic of fructose-related obesity, diabetes and related adverse metabolic states in Western populations. Fructose catabolism is initiated by its phosphorylati
- PMID 19237742
- Doctor, my son is so tired... about a case of hereditary fructose intolerance.
- Guery MJ1, Douillard C, Marcelli-Tourvieille S, Dobbelaere D, Wemeau JL, Vantyghem MC.
- Annales d'endocrinologie.Ann Endocrinol (Paris).2007 Dec;68(6):456-9. Epub 2007 Nov 26.
- We present the case of a 17-year-old male who was diagnosed at birth with hereditary fructose intolerance (HFI). The patient complained of morning-time asthenia and post-prandial drowsiness despite a correct sleep pattern. The physical examination and biological check-up only showed severe vitamin C
- PMID 18035330
- Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria.
- Asipu A1, Hayward BE, O'Reilly J, Bonthron DT.
- Diabetes.Diabetes.2003 Sep;52(9):2426-32.
- Alternative splicing of the ketohexokinase (fructokinase) gene generates a "central" predominantly hepatic isoform (ketohexokinase-C) and a more widely distributed ketohexokinase-A. Only the abundant hepatic isoform is known to possess activity, and no function is defined for the lower levels of ket
- PMID 12941785
和文文献
- 果糖尿症,Fructosuria,Fructosurie (先天性糖質代謝異常(特集))
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関連リンク
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- fructosuria disturbance of fructose metabolism resulting from a hereditary disorder or intolerance. Normally, fructose is first metabolized in the body to fructose-1-phosphate by a specific organic catalyst or enzyme called fructokinase.
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- Important It is possible that the main title of the report Fructosuria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...
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