essential fructosuria

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 also hereditary fructose intolerance, under intolerance.

Medical dictionary. 2011.

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  • 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… …   Wikipedia

  • 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

  • Lactose intolerance — Classification and external resources Lactose (disaccharide of β D galactose β D glucose) is normally split by lactase. ICD 10 …   Wikipedia

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

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