Hereditary fructose intolerance: Difference between revisions
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__NOTOC__ | |||
{{SI}} | |||
{{CMG}}; {{AE}} | |||
{{DiseaseDisorder infobox | | {{DiseaseDisorder infobox | | ||
Name = Fructose intolerance | | Name = Fructose intolerance | | ||
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MeshID = D005633 | | MeshID = D005633 | | ||
}} | }} | ||
==Overview== | |||
'''Hereditary fructose intolerance''' (HFI) or '''fructose poisoning''' is a [[hereditary condition]] caused by a deficiency of [[liver]] [[enzyme]]s that [[metabolism|metabolise]] [[fructose]]. | |||
==Historical Perspective== | |||
==Classification== | |||
==Pathophysiology== | |||
===Presentation=== | |||
If fructose is ingested, other symptoms such as vomiting, [[hypoglycemia]], [[jaundice]], [[hemorrhage]], [[hepatomegaly]], [[hyperuricemia]] and eventually [[kidney failure]] will follow. | |||
==Causes== | ==Causes== | ||
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In addition, [[aldolase-B]] plays an important role in [[gluconeogenesis]], producing [[fructose-1,6-bisphosphate]] from [[glyceraldehyde-3-phosphate]] and DHAP. Thus, glucose cannot be released through the breakdown of [[glycogen]] nor can it be synthesized from [[gluconeogenesis]], resulting in severe [[hypoglycaemia]]. | In addition, [[aldolase-B]] plays an important role in [[gluconeogenesis]], producing [[fructose-1,6-bisphosphate]] from [[glyceraldehyde-3-phosphate]] and DHAP. Thus, glucose cannot be released through the breakdown of [[glycogen]] nor can it be synthesized from [[gluconeogenesis]], resulting in severe [[hypoglycaemia]]. | ||
== | ==Differentiating {{PAGENAME}} from Other Diseases== | ||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | ==Treatment== | ||
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Fructose and sucrose eliminated from diet. | Fructose and sucrose eliminated from diet. | ||
<ref>{{FPnotebook|/END101}}</ref> | <ref>{{FPnotebook|/END101}}</ref> | ||
===Medical Therapy=== | |||
===Surgery=== | |||
===Primary Prevention=== | |||
===Secondary Prevention=== | |||
==Related conditions== | ==Related conditions== | ||
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==See also== | ==See also== | ||
* [[Inborn error of metabolism]] | * [[Inborn error of metabolism]] | ||
==External links== | ==External links== | ||
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* [http://hfiinfo.proboards42.com/index.cgi HFI-Info Discussion Board] | * [http://hfiinfo.proboards42.com/index.cgi HFI-Info Discussion Board] | ||
==References== | |||
{{reflist|2}} | |||
{{Endocrine, nutritional and metabolic pathology}} | {{Endocrine, nutritional and metabolic pathology}} | ||
[[Category:Endocrinology]] | |||
[[de:Fruktoseintoleranz]] | [[de:Fruktoseintoleranz]] | ||
[[es:Intolerancia a la fructosa]] | [[es:Intolerancia a la fructosa]] | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
Revision as of 13:22, 22 July 2016
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Template:DiseaseDisorder infobox
Overview
Hereditary fructose intolerance (HFI) or fructose poisoning is a hereditary condition caused by a deficiency of liver enzymes that metabolise fructose.
Historical Perspective
Classification
Pathophysiology
Presentation
If fructose is ingested, other symptoms such as vomiting, hypoglycemia, jaundice, hemorrhage, hepatomegaly, hyperuricemia and eventually kidney failure will follow.
Causes
The deficient enzyme is aldolase-B, which converts fructose-1-phosphate to DHAP and glyceraldehyde. This means that the fructose cannot be further metabolised beyond fructose-1-phosphate. This traps phosphates; which are needed to phosphorylate glycogen phosphorylase which carries on to release units of glucose-1-phosphate from glycogen. (Glucose-1-phosphate gets converted to glucose-6-phosphate and then dephosphorylated to form glucose).
In addition, aldolase-B plays an important role in gluconeogenesis, producing fructose-1,6-bisphosphate from glyceraldehyde-3-phosphate and DHAP. Thus, glucose cannot be released through the breakdown of glycogen nor can it be synthesized from gluconeogenesis, resulting in severe hypoglycaemia.
Differentiating Hereditary fructose intolerance from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Treatment is with a fructose free diet, which if adhered to, is concordant with a good prognosis. [1]
Fructose and sucrose eliminated from diet. [2]
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Related conditions
Hereditary fructose intolerance should not be confused with fructose malabsorption. The latter is the same as dietary fructose intolerance (DFI), a deficiency of fructose transporter enzyme in the enterocytes, which leads to abdominal bloating, diarrhea and/or constipation.
See also
External links
- Boston University HFI Lab
- http://www.uihealthcare.com/topics/medicaldepartments/foodandnutrition/dfi/whatisdfi.html
- Food-Info.net Fructose Intolerance (with list of acceptable and non-acceptable carbohydrates)
- [2]
- HFI-Info Discussion Board