Reactome | Beta-ketothiolase deficiency

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Beta-ketothiolase deficiency Show undefined attributes

authored	[InstanceEdit:9916982] Rothfels, Karen, 2024-07-29
created	[InstanceEdit:9915357] Rothfels, Karen, 2024-07-04
crossReference	[DatabaseIdentifier:12020928] Mondo:0008760
dbId	9915355
disease	[Disease:9915327] beta-ketothiolase deficiency [Disease:5625037] amino acid metabolic disorder
displayName	Beta-ketothiolase deficiency
edited	[InstanceEdit:9916874] Rothfels, Karen, 2024-07-26
eventOf	[Pathway:R-HSA-9865118] Diseases of branched-chain amino acid catabolism - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-9915356] ACAT1 mutants don't synthesize propionyl-CoA or acetyl-CoA - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9915294] Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency [LiteratureReference:508383] Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function [LiteratureReference:9915313] Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency [LiteratureReference:9915311] An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis [LiteratureReference:9915325] Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts [LiteratureReference:9915305] Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency [LiteratureReference:9915301] Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients [LiteratureReference:9915323] Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency [LiteratureReference:9915309] Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure [LiteratureReference:9915306] Inborn errors of isoleucine degradation: a review
maxDepth	2
modified	[InstanceEdit:9918943] Rothfels, Karen, 2024-08-18
name	Beta-ketothiolase deficiency Alpha-methylacetoacetic aciduria
normalPathway	[Pathway:R-HSA-70895] Branched-chain amino acid catabolism
previousReviewStatus	[ReviewStatus:9821383] three stars
releaseDate	2024-09-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9918941] D'Eustachio, Peter, 2024-08-18
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9915355
summation	[Summation:9915282] ACAT1 is a mitochondrial enzyme that plays a role in metabol...

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[Pathway:R-HSA-9865118] Diseases of branched-chain amino acid catabolism

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