Reactome | Branched-chain ketoacid dehydrogenase kinase deficiency

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Branched-chain ketoacid dehydrogenase kinase deficiency Show undefined attributes

authored	[InstanceEdit:9916982] Rothfels, Karen, 2024-07-29
created	[InstanceEdit:9912479] Rothfels, Karen, 2024-06-08
crossReference	[DatabaseIdentifier:12020922] Mondo:0004736
dbId	9912481
disease	[Disease:9912464] branched-chain keto acid dehydrogenase kinase deficiency [Disease:5625037] amino acid metabolic disorder
displayName	Branched-chain ketoacid dehydrogenase kinase 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-9912480] BCKDK loss-of-function mutations do not phosphorylate BCKDH - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9912448] Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice [LiteratureReference:5693126] Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy [LiteratureReference:5693166] Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients [LiteratureReference:9912416] BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening [LiteratureReference:9912446] Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases [LiteratureReference:5693149] Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenase [LiteratureReference:5693118] Molecular mechanism for regulation of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase complex by phosphorylation
maxDepth	2
modified	[InstanceEdit:9918943] Rothfels, Karen, 2024-08-18
name	Branched-chain ketoacid dehydrogenase kinase 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-9912481
summation	[Summation:9912457] Branched-chain ketoacid dehydrogenase kinase deficiency (BCK...

Referrals

(hasEvent)

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