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Essential fructosuria
Classification and external resources
ICD-10 E74.1
ICD-9 271.2
OMIM 229800
DiseasesDB 5001

Essential fructosuria, also known as hepatic fructokinase deficiency or ketohexokinase deficiency,[1] 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.[2] Inheritance is autosomal recessive.[3]

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.

Essential fructosuria has an autosomal recessive pattern of inheritance.


  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 229800
  2. ^ Asipu A, Hayward BE, O'Reilly J, Bonthron DT (2003). "Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria". Diabetes 52 (9): 2426–2432. doi:10.2337/diabetes.52.9.2426. PMID 12941785.  
  3. ^ Cox TM, O'Donnell MW, Camilleri M (November 1983). "Allelic heterogeneity in adult hereditary fructose intolerance. Detection of structural mutations in the aldolase B molecule" (Free full text). Molecular biology and medicine 1 (4): 393–400. ISSN 0735-1313. PMID 6680153.  


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