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About: Histidinemia     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:WikicatAminoAcidMetabolismDisordersyago:WikicatAutosomalRecessiveDisordersyago:WikicatMetabolicDisordersyago:Abstraction100002137yago:Attribute100024264yago:Condition113920835yago:Disease114070360yago:Disorder114052403yago:IllHealth114052046yago:Illness114061805yago:MetabolicDisorder114084502yago:PathologicalState114051917yago:PhysicalCondition114034177diseaseyago:State100024720umbel-rc:AilmentCondition New Facet based on Instances of this Class

Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine. Although originally thought to be linked to multiple developmental disorders histidinemia is now accepted as a relatively benign disorder, leading to a reduction in the prevalence of neonatal screening procedures.