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About: Enolase deficiency     Goto   Sponge   NotDistinct   Permalink

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

Type: ThingDiseaseyago:Abstraction100002137yago:Act100030358yago:Attribute100024264yago:Condition113920835yago:Disease114070360yago:Event100029378yago:IllHealth114052046yago:Illness114061805yago:Mistake100070965yago:Nonaccomplishment100066216yago:PathologicalState114051917yago:PhysicalCondition114034177yago:PsychologicalFeature100023100yago:WikicatInbornErrorsOfCarbohydrateMetabolismyago:YagoPermanentlyLocatedEntitydiseaseyago:State100024720umbel-rc:AilmentCondition New Facet based on Instances of this Class

Enolase Deficiency is a rare genetic disorder of glucose metabolism. Partial deficiencies have been observed in several caucasian families. The deficiency is transmitted through an autosomal dominant inheritance pattern. The gene for Enolase 1 has been localized to Chromosome 1 in humans. Enolase deficiency, like other glycolytic enzyme deficiences, usually manifests in red blood cells as they rely entirely on anaerobic glycolysis. Enolase deficiency is associated with a spherocytic phenotype and can result in hemolytic anemia, which is responsible for the clinical signs of Enolase deficiency.