Essential fructosuria

Essential fructosuria

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 5001
ICD10 = ICD10|E|74|1|e|70
ICD9 = ICD9|271.2
ICDO =
OMIM = 229800
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Essential fructosuria, also known as hepatic fructokinase deficiency or ketohexokinase deficiency,OMIM|229800] is a hereditary metabolic disorder caused by a deficiency in hepatic fructokinase, leading to fructose being excreted in the urine ("-uria" denotes "in the urine"). It is essentially a benign condition, as fructose cannot be broken down, so it is simply excreted in the urine. [cite journal |author=Asipu A, Hayward BE, O'Reilly J, Bonthron DT |title=Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria |journal=Diabetes |volume=52 |issue=9 |pages=2426-2432 |year=2003 |pmid=12941785 |doi=10.2337/diabetes.52.9.2426] Inheritance is autosomal recessive. [cite journal |pmid=6680153 |year=1983 |month=Nov |author=Cox TM, O'Donnell MW, Camilleri M |title=Allelic heterogeneity in adult hereditary fructose intolerance. Detection of structural mutations in the aldolase B molecule |volume=1 |issue=4 |pages=393-400 |issn=0735-1313 |journal=Molecular biology and medicine |url=http://www.nlm.nih.gov/medlineplus/genesandgenetherapy.html |format=Free full text]

Essential fructosuria should not be confused with "fructosemia", which denotes fructose in the blood (also known as hereditary fructose intolerance). Fructosemia is a very serious condition, as fructose is converted into fructose-1-phosphate, using up ATP and building up fructose-1-phosphate in the blood. This prevents proper release of glucose from glycogen, uses up free phosphate, and causes a rise in uric acid, leading to growth abnormalities and, in severe cases, coma.

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  • essential fructosuria — a benign, asymptomatic, autosomal recessive disorder of carbohydrate metabolism due to deficiency of hepatic fructokinase resulting from mutations in the KHK gene (locus: 2p23.3 23.2); the only manifestations are fructosemia and fructosuria. See… …   Medical dictionary

  • fructosuria — Excretion of fructose in the urine. SYN: levulosuria. [fructose + G. ouron, urine] benign f. SYN: essential f.. essential f. [MIM*229800] a benign, asymptomatic …   Medical dictionary

  • Fructolysis — refers to the metabolism of fructose from dietary sources. Fructose, represents about 20% of dietary carbohydrate intake (60 – 80 g) in most individuals. The typical American diet contains approximately 50% of the carbohydrate as polysaccharides… …   Wikipedia

  • Fructokinase — (/fruc•to•ki•nase/ [ ki´nas] ), also known as D fructokinase or D fructose (D mannose) kinase, [http://www.kegg.com/dbget bin/www bget?enzyme+2.7.1.4 DBGET ENZYME: 2.7.1.4] . Retrieved 2007 05 06] is an enzyme of the liver, intestine, and kidney… …   Wikipedia

  • Fructokinasa — Fructokinasa[1] Otros nombres ketohexokinasa, fructokinasa hepática HUGO 6315 …   Wikipedia Español

  • НЕДОСТАТОЧНОСТЬ ФЕРМЕНТОВ — мед. Синдромы врождённых нарушений обмена веществ встречаются редко, но оказывают значительное влияние на физическое, интеллектуальное, психическое развитие и качество жизни (например, фенилкетонурия, гомоцистинурия, гликогенозы, синдромы ломкой… …   Справочник по болезням

  • hereditary fructose intolerance — an autosomal recessive carbohydrate intolerance with onset in infancy, caused by mutation in the ALDOB gene (locus: 9q22.3), which encodes fructose bisphosphate aldolase, isozyme B; the resulting enzyme deficiency is characterized by hypoglycemia …   Medical dictionary

  • fructokinase — A liver enzyme that catalyzes the reaction of ATP and d fructose to form fructose 6 phosphate and ADP; deficient in individuals with essential fructosuria (hepatic f. deficiency). * * * fruc·to·kin·ase .frək tō kīn .ās, kin , .āz, .fru̇k n a… …   Medical dictionary

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  • Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 …   Wikipedia

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