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Details on Person methylmalonic aciduria and homocystinuria type cblC

Class:IdDisease:3318630
_displayNamemethylmalonic aciduria and homocystinuria type cblC
_timestamp2013-04-29 16:04:10
created[InstanceEdit:3318614] Jassal, B, 2013-04-29
definitionA methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.
identifier0050715
modified[InstanceEdit:3318649] Jassal, B, 2013-04-29
namemethylmalonic aciduria and homocystinuria type cblC
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymCobalamin C deficiency
(disease)[FailedReaction:3318576] Defective MMACHC does not reduce Cbl [Homo sapiens]
[FailedReaction:3318590] Defective MMACHC does not decyanate CNCbl [Homo sapiens]
[Pathway:3359474] Defective MMACHC causes MAHCC [Homo sapiens]
[EntityWithAccessionedSequence:3318572] MMACHC R132* [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3318593] MMACHC R111* [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3318604] MMACHC R91Kfs*14 [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3318613] MMACHC R161Q [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3928672] MMACHC W203* [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by methylmalonic aciduria and homocystinuria type cblC (3318630)
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