Reactome | Defective MUT causes MMAM

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Defective MUT causes MMAM Show undefined attributes

authored	[InstanceEdit:3359476] Jassal, B, 2013-05-13
created	[InstanceEdit:3359476] Jassal, B, 2013-05-13
crossReference	[DatabaseIdentifier:12020946] Mondo:0009612
dbId	3359478
disease	[Disease:9759773] methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
displayName	Defective MUT causes MMAM
edited	[InstanceEdit:3359461] Jassal, B, 2013-05-13
eventOf	[Pathway:R-HSA-9759785] Diseases of propionyl-CoA catabolism - Homo sapiens
hasDiagram	false
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-3322971] Defective MUT does not isomerise L-MM-CoA to SUCC-CoA - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:3159269] Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective MUT causes MMAM Defective MUT causes methylmalonic aciduria mut type
normalPathway	[Pathway:R-HSA-71032] Propionyl-CoA catabolism
releaseDate	2013-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:4093346] Watkins, D, 2013-08-14
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-3359478
summation	[Summation:3359470] Defects in MUT cause methylmalonic aciduria, mut type (MMAM;...
updateTrackers	[UpdateTracker:9785299] Update Tracker - [Pathway:3359478] Defective MUT causes MMAM - v52:[removeHasEvent] [UpdateTracker:9778554] Update Tracker - [Pathway:3359478] Defective MUT causes MMAM - v68:[updateContainedRLE] [UpdateTracker:9779984] Update Tracker - [Pathway:3359478] Defective MUT causes MMAM - v64:[updateContainedRLE] [UpdateTracker:9780812] Update Tracker - [Pathway:3359478] Defective MUT causes MMAM - v62:[updateContainedRLE] [UpdateTracker:9786122] Update Tracker - [Pathway:3359478] Defective MUT causes MMAM - v50:[updateContainedPathway]

Referrals

(updatedInstance)

[UpdateTracker:9785299] Update Tracker - [Pathway:3359478] Defective MUT causes MMAM - v52:[removeHasEvent]
[UpdateTracker:9778554] Update Tracker - [Pathway:3359478] Defective MUT causes MMAM - v68:[updateContainedRLE]
[UpdateTracker:9779984] Update Tracker - [Pathway:3359478] Defective MUT causes MMAM - v64:[updateContainedRLE]
[UpdateTracker:9780812] Update Tracker - [Pathway:3359478] Defective MUT causes MMAM - v62:[updateContainedRLE]
[UpdateTracker:9786122] Update Tracker - [Pathway:3359478] Defective MUT causes MMAM - v50:[updateContainedPathway]

(hasEvent)

[Pathway:R-HSA-9759785] Diseases of propionyl-CoA catabolism