Infobox_Disease
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DiseasesDB = 5001
ICD10 = ICD10|E|74|1|e|70
ICD9 = ICD9|271.2
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OMIM = 229800
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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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