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• Essential_fructosuria abstract "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. Fructokinase (sometimes called ketohexokinase) is the first enzyme involved in the degradation of fructose to fructose-1-phosphate in the liver. This defective degradation does not cause any clinical symptoms, fructose is either excreted unchanged in the urine or metabolized to fructose-1-phosphate by alternate pathways in the body, most commonly by hexokinase in adipose tissue and muscle.Essential fructosuria is a genetic condition that is inherited in an autosomal recessive manner. 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.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. The amount of fructose routinely lost in urine is quite small. 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.".
• Essential_fructosuria diseasesdb "5001".
• Essential_fructosuria icd10 "E74.1".
• Essential_fructosuria icd9 "271.2".
• Essential_fructosuria omim "229800".
• Essential_fructosuria thumbnail Fructose.svg?width=300.
• Essential_fructosuria wikiPageID "11028991".
• Essential_fructosuria wikiPageRevisionID "594971460".
• Essential_fructosuria caption "Fructose".
• Essential_fructosuria diseasesdb "5001".
• Essential_fructosuria hasPhotoCollection Essential_fructosuria.
• Essential_fructosuria icd "271.2".
• Essential_fructosuria icd "E74.1".
• Essential_fructosuria name "Essential fructosuria".
• Essential_fructosuria omim "229800".
• Essential_fructosuria wordnet_type synset-disease-noun-1.
• Essential_fructosuria subject Category:Autosomal_recessive_disorders.
• Essential_fructosuria subject Category:Inborn_errors_of_carbohydrate_metabolism.
• Essential_fructosuria type Abstraction100002137.
• Essential_fructosuria type Act100030358.
• Essential_fructosuria type Attribute100024264.
• Essential_fructosuria type AutosomalRecessiveDisorders.
• Essential_fructosuria type Condition113920835.
• Essential_fructosuria type Disease114070360.
• Essential_fructosuria type Disorder114052403.
• Essential_fructosuria type Event100029378.
• Essential_fructosuria type IllHealth114052046.
• Essential_fructosuria type Illness114061805.
• Essential_fructosuria type InbornErrorsOfCarbohydrateMetabolism.
• Essential_fructosuria type Mistake100070965.
• Essential_fructosuria type Nonaccomplishment100066216.
• Essential_fructosuria type PathologicalState114051917.
• Essential_fructosuria type PhysicalCondition114034177.
• Essential_fructosuria type PsychologicalFeature100023100.
• Essential_fructosuria type State100024720.
• Essential_fructosuria type YagoPermanentlyLocatedEntity.
• Essential_fructosuria type Disease.
• Essential_fructosuria type AilmentCondition.
• Essential_fructosuria type Situation.
• Essential_fructosuria comment "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. Fructokinase (sometimes called ketohexokinase) is the first enzyme involved in the degradation of fructose to fructose-1-phosphate in the liver.".
• Essential_fructosuria label "Essential fructosuria".
• Essential_fructosuria label "Fructosurie".
• Essential_fructosuria label "Эссенциальная фруктозурия".
• Essential_fructosuria sameAs Fructosurie.
• Essential_fructosuria sameAs m.02qylr1.
• Essential_fructosuria sameAs Q2791374.
• Essential_fructosuria sameAs Q2791374.
• Essential_fructosuria sameAs 2413.
• Essential_fructosuria sameAs 422.
• Essential_fructosuria sameAs Essential_fructosuria.
• Essential_fructosuria wasDerivedFrom Essential_fructosuria?oldid=594971460.
• Essential_fructosuria depiction Fructose.svg.
• Essential_fructosuria isPrimaryTopicOf Essential_fructosuria.
• Essential_fructosuria name "Essential fructosuria".