Essential fructosuria: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Essential fructosuria | |||
| image = [[File:Fructose.svg|150px]] | |||
| caption = [[Fructose]] | |||
| field = [[Endocrinology]] | |||
| symptoms = Usually asymptomatic | |||
| complications = None | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = [[Fructokinase]] deficiency | |||
| risks = None | |||
| diagnosis = [[Urine test]] | |||
| differential = [[Hereditary fructose intolerance]] | |||
| treatment = None required | |||
| medication = None | |||
| prognosis = Excellent | |||
| frequency = Rare | |||
| deaths = None | |||
}} | |||
'''Essential fructosuria''' is a rare, benign, inherited metabolic disorder characterized by the body's inability to process [[fructose]] and related sugars. It is caused by a deficiency of the enzyme [[fructokinase]], which leads to an accumulation of fructose in the urine. | '''Essential fructosuria''' is a rare, benign, inherited metabolic disorder characterized by the body's inability to process [[fructose]] and related sugars. It is caused by a deficiency of the enzyme [[fructokinase]], which leads to an accumulation of fructose in the urine. | ||
== Causes == | == Causes == | ||
Essential fructosuria is caused by a deficiency of the enzyme fructokinase due to mutations in the [[KHK]] gene. This gene provides instructions for making fructokinase, which is involved in the first step of breaking down fructose in the body's cells. When fructokinase is deficient, fructose cannot be broken down and instead accumulates in the urine. | Essential fructosuria is caused by a deficiency of the enzyme fructokinase due to mutations in the [[KHK]] gene. This gene provides instructions for making fructokinase, which is involved in the first step of breaking down fructose in the body's cells. When fructokinase is deficient, fructose cannot be broken down and instead accumulates in the urine. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of essential fructosuria are generally mild and can include [[fructose intolerance]], which can lead to abdominal pain, bloating, and diarrhea after consuming fructose. However, many individuals with essential fructosuria do not experience any symptoms. | The symptoms of essential fructosuria are generally mild and can include [[fructose intolerance]], which can lead to abdominal pain, bloating, and diarrhea after consuming fructose. However, many individuals with essential fructosuria do not experience any symptoms. | ||
== Diagnosis == | == Diagnosis == | ||
Essential fructosuria is diagnosed through a urine test that detects the presence of fructose. Genetic testing can also be used to identify mutations in the KHK gene. | Essential fructosuria is diagnosed through a urine test that detects the presence of fructose. Genetic testing can also be used to identify mutations in the KHK gene. | ||
== Treatment == | == Treatment == | ||
There is no specific treatment for essential fructosuria. Management of the condition involves avoiding foods and drinks that contain fructose. | There is no specific treatment for essential fructosuria. Management of the condition involves avoiding foods and drinks that contain fructose. | ||
== See also == | == See also == | ||
* [[Fructose intolerance]] | * [[Fructose intolerance]] | ||
* [[Fructokinase]] | * [[Fructokinase]] | ||
* [[KHK gene]] | * [[KHK gene]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 14:31, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Essential fructosuria | |
|---|---|
| File:Fructose.svg | |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Usually asymptomatic |
| Complications | None |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Fructokinase deficiency |
| Risks | None |
| Diagnosis | Urine test |
| Differential diagnosis | Hereditary fructose intolerance |
| Prevention | N/A |
| Treatment | None required |
| Medication | None |
| Prognosis | Excellent |
| Frequency | Rare |
| Deaths | None |
Essential fructosuria is a rare, benign, inherited metabolic disorder characterized by the body's inability to process fructose and related sugars. It is caused by a deficiency of the enzyme fructokinase, which leads to an accumulation of fructose in the urine.
Causes[edit]
Essential fructosuria is caused by a deficiency of the enzyme fructokinase due to mutations in the KHK gene. This gene provides instructions for making fructokinase, which is involved in the first step of breaking down fructose in the body's cells. When fructokinase is deficient, fructose cannot be broken down and instead accumulates in the urine.
Symptoms[edit]
The symptoms of essential fructosuria are generally mild and can include fructose intolerance, which can lead to abdominal pain, bloating, and diarrhea after consuming fructose. However, many individuals with essential fructosuria do not experience any symptoms.
Diagnosis[edit]
Essential fructosuria is diagnosed through a urine test that detects the presence of fructose. Genetic testing can also be used to identify mutations in the KHK gene.
Treatment[edit]
There is no specific treatment for essential fructosuria. Management of the condition involves avoiding foods and drinks that contain fructose.
See also[edit]
References[edit]
<references />
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