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Details on Person maple syrup urine disease

Class:Id	Disease:9865030
_displayName	maple syrup urine disease
_timestamp	2024-03-08 21:46:44
created	[InstanceEdit:9865029] Rothfels, Karen, 2024-03-08
identifier	9269
name	maple syrup urine disease
referenceDatabase	[ReferenceDatabase:1247631] DOID
synonym	dihydrolipoamide dehydrogenase deficiency
(disease)	[Pathway:9865113] Loss-of-function mutations in DBT cause MSUD2 [Homo sapiens] [Pathway:9865114] Maple Syrup Urine Disease [Homo sapiens] [FailedReaction:9865115] DBT loss-of-function mutants don't synthesize BCAA-CoA [Homo sapiens] [FailedReaction:9865121] BCKDHA or BCKDHB loss-of-function mutants don't synthesize BCAA-CoA [Homo sapiens] [Pathway:9865125] Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD [Homo sapiens] [Pathway:9907570] Loss-of-function mutations in DLD cause MSUD3/DLDD [Homo sapiens] [FailedReaction:9907572] Loss-of-function DLD mutants don't dehydrogenate dihydrolipoyl DBT [Homo sapiens] [FailedReaction:9912527] H139Hfs13* PPM1K does not dephosphorylate BCKDH [Homo sapiens] [Pathway:9912529] H139Hfs13* PPM1K causes a mild variant of MSUD [Homo sapiens] [EntityWithAccessionedSequence:9865036] S399C Lipo-K105-DBT [mitochondrial matrix] [Homo sapiens] List all 46 refering instances
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No pathways have been reviewed or authored by maple syrup urine disease (9865030)