Reactome | Hereditary fructose intolerance

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Hereditary fructose intolerance Show undefined attributes

authored	[InstanceEdit:5668966] D'Eustachio, Peter, 2015-01-29
created	[InstanceEdit:5657563] D'Eustachio, Peter, 2014-12-13
crossReference	[DatabaseIdentifier:12020945] Mondo:0009249
dbId	5657560
deleted	[Deleted:5683849] Deletion of instance: 5657559
disease	[Disease:5656451] hereditary fructose intolerance syndrome
displayName	Hereditary fructose intolerance
doi	10.3180/r-hsa-5657560.1
edited	[InstanceEdit:5668966] D'Eustachio, Peter, 2015-01-29
eventOf	[Pathway:R-HSA-5663084] Diseases of carbohydrate metabolism - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5656438] Defective ALDOB does not cleave Fru 1-P to GA and DHAP - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:5656437] Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation [LiteratureReference:469704] Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Hereditary fructose intolerance
normalPathway	[Pathway:R-HSA-5652084] Fructose metabolism
releaseDate	2015-03-19
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5675821] Timson, David J, Tolan, Dean R, 2015-02-16 [InstanceEdit:5668911] Jassal, Bijay, 2015-01-29
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5657560
summation	[Summation:5657558] Deficiencies in aldolase B arising from mutations in the ald...
updateTrackers	[UpdateTracker:9778653] Update Tracker - [Pathway:5657560] Hereditary fructose intolerance - v68:[updateContainedRLE]

Referrals

(updatedInstance)	[UpdateTracker:9778653] Update Tracker - [Pathway:5657560] Hereditary fructose intolerance - v68:[updateContainedRLE]
(replacementInstances)	[Deleted:5683849] Deletion of instance: 5657559
(hasEvent)	[Pathway:R-HSA-5663084] Diseases of carbohydrate metabolism

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