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Statements

Subject Item
dbr:List_of_causes_of_hypoglycemia
dbo:wikiPageWikiLink
dbr:Hyperinsulinism-hyperammonemia_syndrome
Subject Item
dbr:Hyperammonemia
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dbr:Hyperinsulinism-hyperammonemia_syndrome
Subject Item
dbr:Hyperinsulinism-hyperammonemia_syndrome
rdf:type
wikidata:Q12136 dbo:Disease owl:Thing
rdfs:label
Syndrome d'hyperinsulinisme et hyperammoniémie Hyperinsulinism-hyperammonemia syndrome
rdfs:comment
Hyperinsulinism-hyperammonemia syndrome (HI/HA) is an autosomal dominant disorder that results in the excess production of insulin and ammonia in mammals. HI/HA is caused by increased Glutamate dehydrogenase 1 (GDH) activity due to the presence of overactivating point mutations in GDH. These point mutations either directly or indirectly prevent guanosine triphosphate (GTP) binding and inhibition of GDH, which causes GDH to uncontrollably remain active. Le syndrome d'hyperinsulinisme et hyperammoniémie (HI/HA) est une maladie autosomique dominante qui entraîne une production excessive d'insuline et d'ammoniac chez les mammifères.
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dbc:Autosomal_dominant_disorders
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54718341
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1046201839
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dbc:Autosomal_dominant_disorders dbr:Insulin dbr:Guanosine_triphosphate dbr:Glutamate_dehydrogenase_1 dbr:Point_mutation dbr:Autosomal dbr:Dominance_(genetics) dbr:Mammal dbr:Ammonia
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dbt:PAGENAME dbt:Genetic-disorder-stub dbt:Reflist dbt:Infobox_medical_condition_(new)
dbp:synonyms
HI/HA or HHS
dbo:abstract
Le syndrome d'hyperinsulinisme et hyperammoniémie (HI/HA) est une maladie autosomique dominante qui entraîne une production excessive d'insuline et d'ammoniac chez les mammifères. Hyperinsulinism-hyperammonemia syndrome (HI/HA) is an autosomal dominant disorder that results in the excess production of insulin and ammonia in mammals. HI/HA is caused by increased Glutamate dehydrogenase 1 (GDH) activity due to the presence of overactivating point mutations in GDH. These point mutations either directly or indirectly prevent guanosine triphosphate (GTP) binding and inhibition of GDH, which causes GDH to uncontrollably remain active.
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wikipedia-en:Hyperinsulinism-hyperammonemia_syndrome?oldid=1046201839&ns=0
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1945
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dbr:Hyperinsulinism-hyperammonemia_syndrome
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dbr:List_of_OMIM_disorder_codes
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Subject Item
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