Reactome | Maple Syrup Urine Disease

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Maple Syrup Urine Disease Show undefined attributes

authored	[InstanceEdit:9916982] Rothfels, Karen, 2024-07-29
created	[InstanceEdit:9865122] Rothfels, Karen, 2024-03-08
crossReference	[DatabaseIdentifier:12020927] Mondo:0009563
dbId	9865114
disease	[Disease:9865030] maple syrup urine disease
displayName	Maple Syrup Urine Disease
edited	[InstanceEdit:9916874] Rothfels, Karen, 2024-07-26
eventOf	[Pathway:R-HSA-9865118] Diseases of branched-chain amino acid catabolism - Homo sapiens
figure	[Figure:9918392] /figures/ehld/R-HSA-9865114.svg
hasDiagram	true
hasEHLD	true
hasEvent	[Pathway:R-HSA-9865125] Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD - Homo sapiens [Pathway:R-HSA-9865113] Loss-of-function mutations in DBT cause MSUD2 - Homo sapiens [Pathway:R-HSA-9907570] Loss-of-function mutations in DLD cause MSUD3/DLDD - Homo sapiens [Pathway:R-HSA-9912529] H139Hfs13* PPM1K causes a mild variant of MSUD - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9864958] Maple Syrup Urine Disease [LiteratureReference:9912490] Branched-Chain Amino Acids Metabolism and Their Roles in Retinopathy: From Relevance to Mechanism [LiteratureReference:508260] Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex [LiteratureReference:450848] Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations [LiteratureReference:70020] Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. [LiteratureReference:9864994] Role of branched-chain amino acid-catabolizing enzymes in intertissue signaling, metabolic remodeling, and energy homeostasis [LiteratureReference:9864992] Regulation of mammalian pyruvate and branched-chain alpha-keto acid dehydrogenase complexes by phosphorylation-dephosphorylation [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 [LiteratureReference:5693140] Structural and biochemical characterization of human mitochondrial branched-chain ?-ketoacid dehydrogenase phosphatase
maxDepth	3
modified	[InstanceEdit:9919279] Matthews, Lisa, 2024-08-20
name	Maple Syrup Urine Disease
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-9865114
summation	[Summation:9865033] The branched-chain alpha ketoacid dehydrogenase complex (BCK...

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

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