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About: Fumarase deficiency     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.org associated with source document(s)

Type: ThingDiseaseyago:WikicatAminoAcidMetabolismDisordersyago:WikicatAutosomalRecessiveDisordersyago:WikicatMetabolicDisordersyago:Abstraction100002137yago:Act100030358yago:Attribute100024264yago:Condition113920835yago:Disease114070360yago:Disorder114052403yago:Event100029378yago:GeneticDisease114151139yago:IllHealth114052046yago:Illness114061805yago:MetabolicDisorder114084502yago:Mistake100070965yago:Nonaccomplishment100066216yago:PathologicalState114051917yago:PhysicalCondition114034177yago:PsychologicalFeature100023100yago:WikicatGeneticDisordersyago:WikicatInbornErrorsOfMetabolismyago:YagoPermanentlyLocatedEntitydiseaseyago:State100024720umbel-rc:AilmentCondition New Facet based on Instances of this Class

Fumarase deficiency (or fumaric aciduria) is an exceedingly rare autosomal recessive metabolic disorder in the Krebs cycle, characterized by a deficiency of the enzyme fumarate hydratase, which causes a buildup of fumaric acid in the urine and a deficiency of malate. Only 13 cases were known worldwide in 1990, after which a cluster of 20 cases was documented in a community in Arizona that has practiced successive endogamy.