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Details on Person hypermethioninemia

Class:IdDisease:5579115
_displayNamehypermethioninemia
_timestamp2014-06-06 15:37:58
created[InstanceEdit:5579090] Jassal, Bijay, 2014-06-06
definitionAn amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
identifier0050544
namehypermethioninemia
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymHYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
(disease)[Pathway:5578997] Defective AHCY causes HMAHCHD [Homo sapiens]
[Pathway:5579024] Defective MAT1A causes MATD [Homo sapiens]
[FailedReaction:5579084] Defective AHCY does not hydrolyse AdoHcy [Homo sapiens]
[FailedReaction:5603087] Defective MAT1A does not transfer Ado from ATP to L-Met [Homo sapiens]
[DefinedSet:5579035] AHCY mutants [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5579042] AHCY W112* [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5579098] AHCY Y143C [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5603077] MAT1A K181Vfs*5 [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5603099] MAT1A H277Afs*75 [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5603112] MAT1A V348Gfs*3 [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by hypermethioninemia (5579115)