Reactome | Defective GALE causes EDG

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Defective GALE causes EDG Show undefined attributes

authored	[InstanceEdit:5609973] Jassal, Bijay, 2014-07-18
created	[InstanceEdit:5609973] Jassal, Bijay, 2014-07-18
crossReference	[DatabaseIdentifier:12020875] Mondo:0018116
dbId	5609977
disease	[Disease:5610005] galactosemia
displayName	Defective GALE causes EDG
edited	[InstanceEdit:5609973] Jassal, Bijay, 2014-07-18
eventOf	[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5610036] Defective GALE does not epimerise UDP-Gal to UDP-Glc - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:5610027] Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication [LiteratureReference:5610051] Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency [LiteratureReference:5678667] Epimerase-deficiency galactosemia is not a binary condition
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective GALE causes EDG Defective GALE causes Epimerase-deficiency galactosemia (EDG)
normalPathway	[Pathway:R-HSA-70370] Galactose catabolism
releaseDate	2015-06-17
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5678669] Timson, David J, 2015-02-25
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5609977
summation	[Summation:5610024] Cytosolic UDP-galactose 4'-epimerase (GALE) catalyses the re...
updateTrackers	[UpdateTracker:9778128] Update Tracker - [Pathway:5609977] Defective GALE causes EDG - v68:[updateContainedRLE]

Referrals

(updatedInstance)	[UpdateTracker:9778128] Update Tracker - [Pathway:5609977] Defective GALE causes EDG - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis

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