{"orpha":35878,"name":"Hyperinsulinism-hyperammonemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HI/HA syndrome"],"definition":"A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35878/","orphanet_url":"https://www.orpha.net/en/disease/detail/35878","names":{"fr":{"name":"Syndrome d'hyperinsulinisme et hyperammoniémie","synonyms":["Syndrome HI/HA"],"definition":"Forme diffuse rare d'hyperinsulinisme congénital caractérisée par une sécrétion excessive/incontrôlée d'insuline (inadéquate par rapport au niveau de glycémie), une hyperammonémie chronique et des épisodes récurrents d'hypoglycémie induits par le jeûne et les repas riches en protéines. L'épilepsie et le déficit cognitif, qui ne sont pas liés à l'hypoglycémie mais probablement à l'hyperammonémie chronique, peuvent également s'observer. La maladie est généralement sensible au diazoxide."},"de":{"name":"Hyperinsulinismus-Hyperammonämie-Syndrom","synonyms":["HI/HA-Syndrom"],"definition":"Eine seltene diffuse Form des angeborenen Hyperinsulinismus, die durch eine übermäßige/unkontrollierte Insulinausschüttung (unangemessen für den Blutzuckerspiegel), chronische Hyperammonämie und wiederkehrende Episoden von Hypoglykämie gekennzeichnet ist, die durch Fasten und proteinreiche Mahlzeiten ausgelöst werden. Epilepsie und kognitive Defizite, die nicht mit der Hypoglykämie, sondern möglicherweise mit der chronischen Hyperammonämie zusammenhängen, können ebenfalls auftreten. Diese Störung spricht in der Regel auf eine Diazoxid-Behandlung an."},"es":{"name":"Síndrome de hiperinsulinismo-hiperamonemia","synonyms":["Síndrome HI/HA"],"definition":"Es una forma difusa de hiperinsulinismo congénito poco frecuente caracterizada por una secreción de insulina excesiva/incontrolada (inadecuada para el nivel de glucemia), hiperamonemia crónica y episodios recurrentes de hipoglucemia inducidos por ayunos y comidas ricas en proteínas. También puede asociar epilepsia y deficiencia cognitiva no relacionados con la hipoglucemia, pero posiblemente relacionados con la hiperamonemia crónica. Este trastorno suele responder al tratamiento con diazóxido."},"it":{"name":"Sindrome iperinsulinismo-iperammoniemia","synonyms":["Sindrome HI/HA"],"definition":"L'iperinsulinismo associato a iperammoniemia (HIHA) è una forma comune di iperinsulinismo diffuso sensibile al diazossido (si veda questo termine), caratterizzata da una secrezione eccessiva/incontrollata di insulina (non proporzionale al livello della glicemia), iperammoniemia asintomatica ed episodi ricorrenti di ipoglicemia grave secondari al digiuno e ai pasti ricchi di proteine, che richiedono un trattamento rapido e intensivo per prevenire le sequele neurologiche. Possono anche manifestarsi epilessia e deficit cognitivi non correlati all'ipoglicemia."},"nl":{"name":"Hyperinsulinisme - hyperammoniëmie-syndroom","synonyms":["HI/HA-syndroom"],"definition":"Een zeldzame diffuse vorm van congenitaal hyperinsulinisme, gekenmerkt door excessieve/ongecontroleerde insulinesecretie (niet gepast voor de mate van glycemie), chronische hyperammoniëmie, en recidiverende episodes van hypoglycemie geïnduceerd door vasten en eiwitrijke maaltijden. Epilepsie en cognitieve functiestoornis, die niet gerelateerd zijn aan hypoglycemie maar mogelijk wel aan de chronische hyperammoniëmie, kunnen ook voorkomen. Deze aandoening reageert meestal op behandeling met diazoxide."},"pt":{"name":"Síndrome de hiperinsulinismo-hiperamoniemia","definition":"Forma difusa e rara de hiperinsulinismo congénito caracterizado por uma secreção excessiva/sem controlo da insulina (inapropriada para o nível de glicemia), hiperamonémia crónica e episódios recorrentes de hipoglicemia induzidos por jejum e refeições ricas em proteínas. Também podem ocorrer epilepsia e défice cognitivo, que não estão relacionados com a hipoglicemia, mas possivelmente relacionados com hiperamonemia crónica. A doença habitualmente responde ao tratamento com diazóxido."},"pl":{"name":"Zespół hiperinsulinizm-hiperammonemia","synonyms":["Zespół HI/HA"],"definition":"Rzadka, rozlana postać wrodzonego hiperinsulinizmu, charakteryzująca się niekontrolowanym wydzielaniem insuliny (nieadekwatnym do poziomu glikemii), przewlekłą hiperamonemią i nawracającymi epizodami hipoglikemii wywołanymi głodzeniem i posiłkami bogatymi w białko. Może również wystąpić padaczka i deficyty poznawcze, które nie są związane z hipoglikemią, ale prawdopodobnie z przewlekłą hiperamonemią. Zaburzenie to zwykle poddaje się leczeniu diazoksydem."},"cs":{"name":"Syndrom zahrnující hyperinzulinismus a hyperamonémii","synonyms":["HI/HA syndrom"]},"uk":{"name":"Синдром гіперінсулінізму-гіперамоніємії","synonyms":["Синдром HI/HA"],"definition":"A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment."},"zh":{"name":"高胰岛素-高血氨综合征","synonyms":["HI/HA综合征"]},"tr":{"name":"Hiperinsülinizm-hiperammonemi sendromu","synonyms":["HI/HA sendromu"]}},"xrefs":[{"source":"OMIM","code":"606762","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.AY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1018988640"},{"source":"MONDO","code":"0011717","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538375","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847555","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9931","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":165985,"name":"Diazoxide-sensitive diffuse hyperinsulinism","classifications":[150,156,193]},{"orpha":79167,"name":"Disorder of urea cycle metabolism and ammonia detoxification","classifications":[150,156]}],"children":[],"genes":[{"symbol":"GLUD1","name":"glutamate dehydrogenase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9571255[PMID]_20936362[PMID]_25733449[PMID]","hgnc":"4335","ensembl":"ENSG00000148672","omim":"138130","loci":["10q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-23","source":"11241047[PMID]_21130127[PMID]_14967154[PMID]_20936362[PMID]_11518822[PMID]","terms":[{"hpo":"HP:0008162","label":"Asymptomatic hyperammonemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012051","label":"Reactive hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011198","label":"EEG with generalized epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008283","label":"Fasting hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012402","label":"Increased urine alpha-ketoglutarate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null}]}}