Reactome | 3-hydroxyisobutyryl-CoA hydrolase deficiency

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3-hydroxyisobutyryl-CoA hydrolase deficiency Show undefined attributes

authored	[InstanceEdit:9916982] Rothfels, Karen, 2024-07-29
created	[InstanceEdit:9916725] Rothfels, Karen, 2024-07-25
crossReference	[DatabaseIdentifier:12020920] Mondo:0009603
dbId	9916722
disease	[Disease:9916726] 3-hydroxyisobutryl-CoA hydrolase deficiency
displayName	3-hydroxyisobutyryl-CoA hydrolase 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-9916727] HIBCH mutants don't synthesize beta-hydroxyisobutyrate - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:70873] Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase. [LiteratureReference:9916892] beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations [LiteratureReference:9916885] Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration [LiteratureReference:9916882] HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase [LiteratureReference:9916899] Metabolite studies in HIBCH and ECHS1 defects: Implications for screening [LiteratureReference:9916878] HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders [LiteratureReference:9916868] A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing [LiteratureReference:9916620] Leigh syndrome
maxDepth	2
modified	[InstanceEdit:9918943] Rothfels, Karen, 2024-08-18
name	3-hydroxyisobutyryl-CoA hydrolase deficiency
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-9916722
summation	[Summation:9916904] 3-hydroxyisobutyryl-CoA hydrolase deficiency is an autosomal...

Referrals

(hasEvent)

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