{"orpha":165991,"name":"Exercise-induced hyperinsulinism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EIHI","Exercise-induced hyperinsulinemic hypoglycemia","Hyperinsulinism due to SLC16A1 deficiency","Hyperinsulinism due to monocarboxylate transporter 1 deficiency"],"definition":"A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-165991/","orphanet_url":"https://www.orpha.net/en/disease/detail/165991","names":{"fr":{"name":"Hyperinsulinisme induit par l'effort","synonyms":["EIHI","Hyperinsulinisme par déficit en SLC16A1","Hyperinsulinisme par déficit en transporteur 1 de monocarboxylate","Hypoglycémie hyperinsulinémique induite par l'effort"],"definition":"Forme rare d'hyperinsulinisme congénital diffus sensible au diazoxide caractérisée par des épisodes d'hypoglycémie induits par l'effort, dus à une sensibilité inadéquate des cellules bêta du pancréas au lactate et au pyruvate. Le tableau clinique prend la forme d'épisodes récurrents d'hypoglycémie associés à des taux élevés d'insuline, dans les 30 minutes suivant une brève période d'exercice anaérobie. L'hypoglycémie, dont le degré associé à l'effort est variable, ne répond que partiellement au diazoxide."},"de":{"name":"Hyperinsulinismus, anstrengungsinduzierter","synonyms":["EIHI","Hyperinsulinismus durch Monocarboxylat-Transporter 1-Mangel","Hyperinsulinismus durch SLC16A1-Mangel","Hyperinsulinämische Hypoglykämie, anstrengungsinduzierte"],"definition":"Eine seltene Form des kongenitalen Diazoxid-sensitiven diffusen Hyperinsulinismus, der durch Episoden von Hypoglykämie gekennzeichnet ist, die durch eine unangemessene Laktat- und Pyruvatsensitivität in den Betazellen des Pankreas ausgelöst werden. Es handelt sich um wiederkehrende Episoden von Hypoglykämie in Verbindung mit erhöhten Insulinspiegeln innerhalb von 30 Minuten nach einer kurzen anaeroben Belastung. Das Ausmaß der Hypoglykämie im Zusammenhang mit körperlicher Betätigung ist variabel und spricht nur teilweise auf Diazoxid an."},"es":{"name":"Hiperinsulinismo inducido por ejercicio","synonyms":["HIIE","Hiperinsulinismo por deficiencia de SLC16A1","Hiperinsulinismo por deficiencia del transportador de monocarboxilato 1","Hipoglucemia hiperinsulinémica inducida por el ejercicio"],"definition":"Es una forma poco frecuente de hiperinsulinismo difuso congénito sensible al dióxido que se caracteriza por episodios de hipoglucemia inducidos por el ejercicio debido a una sensibilidad inapropiada al lactato y al piruvato en las células beta pancreáticas. Se manifiesta con episodios recurrentes de hipoglucemia asociados a niveles elevados de insulina, en un plazo de 30 minutos posterior a un período corto de ejercicio anaeróbico. El grado de hipoglucemia asociado al ejercicio es variable y sólo responde parcialmente al diazóxido."},"it":{"name":"Iperinsulinismo indotto dall'esercizio","synonyms":["EIHI","Iperinsulinismo da deficit del trasportatore monocarbossilato 1","Iperinsulinismo da deficit di SLC16A1","Ipoglicemia iperinsulinemica indotta dall'esercizio"],"definition":"L'iperinsulinismo indotto dall'esercizio (EIHI) è una forma di iperinsulinismo diffuso sensibile al diazossido (DHI), caratterizzata da episodi di ipoglicemia indotta dall'esercizio, secondaria a sensibilità non proporzionale al lattato e al piruvato nelle cellule beta del pancreas."},"nl":{"name":"Inspanningsgeïnduceerd hyperinsulinisme","synonyms":["EIHI","Hyperinsulinisme door SLC16A1-deficiëntie","Hyperinsulinisme door monocarboxylaattransporter 1-deficiëntie","Inspanningsgeïnduceerde hyperinsulinemische hypoglycemie"],"definition":"Een zeldzame vorm van congenitaal diazoxidesensitief diffuus hyperinsulinisme, gekenmerkt door episodes van hypoglycemie geïnduceerd door fysieke inspanning als gevolg van onvoldoende gevoeligheid van bètacellen van pancreas voor lactaat en pyruvaat. De ziekte presenteert zich met recidiverende episodes van hypoglycemie geassocieerd met verhoogde insulinegehaltes, binnen 30 minuten na een korte periode van anaerobe inspanning. De mate van hypoglycemie geassocieerd met inspanning varieert en reageert enkel op diazoxide."},"pt":{"name":"Hiperinsulinismo induzido pelo exercício","definition":"Forma rara de hiperinsulinismo difuso congénito sensível ao diazóxido, caracterizado por episódios de hipoglicemia induzidos por exercício devido a uma sensibilidade inadequada ao lactato e ao piruvato nas células beta pancreáticas. A apresentação clínica surge com episódios recorrentes de hipoglicemia associados a níveis elevados de insulina, em 30 minutos após um curto período de exercício anaeróbico. O grau de hipoglicémia associado ao exercício é variável e responde apenas parcialmente ao diazóxido."},"pl":{"name":"Hiperinsulinizm wywoływany wysiłkiem","synonyms":["EIHI","Hiperinsulinizm z powodu niedoboru SLC16A1","Hiperinsulinizm z powodu niedoboru transportera kwasów monokarboksylowych 1","Hipoglikemia hiperinsilinemiczna wywoływana wysiłkiem"],"definition":"Rzadka postać wrodzonego rozlanego hiperinsulinizmu wrażliwego na diazoksyd, charakteryzująca się epizodami hipoglikemii wywołanej wysiłkiem fizycznym wskutek niewłaściwej wrażliwości komórek beta trzustki na mleczan i pirogronian. Przebiega z nawracającymi epizodami hipoglikemii związanej z podwyższonym stężeniem insuliny, a objawy pojawiają się w ciągu 30 minut po krótkotrwałym wysiłku beztlenowym. Nasilenie hipoglikemii związanej z wysiłkiem fizycznym jest zmienne i tylko częściowo reaguje na diazoksyd."},"cs":{"name":"Cvičením vyvolaný hyperinzulinismus","synonyms":["EIHI","Cvičením vyvolaná hyperinzulinemická hypoglykemie","Hyperinzulinismus způsobený deficitem SLC16A1","Hyperinzulinismus způsobený deficitem monokarboxylát transportéru 1"]},"uk":{"name":"Гіперінсулінізм, спричинений фізичним навантаженням","synonyms":["EIHI","Гіперінсулінемічна гіпоглікемія, спричинена фізичним навантаженням","Гіперінсулінізм внаслідок дефіциту монокарбоксилатного транспортера 1","Гіперінсулінізм внаслідок дефіциту SLC16A1"],"definition":"A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide."},"zh":{"name":"运动性高胰岛素血症","synonyms":["单羧酸转运蛋白1缺陷所致高胰岛素血症"],"definition":"运动诱导性高胰岛素血症(EIHI)是二氮嗪敏感型弥漫性高胰岛素血症(DHI)，其特征是胰岛β细胞对乳酸和丙酮酸过度敏感，导致运动诱导低血糖发作。"},"tr":{"name":"Egzersiz kaynaklı hiperinsülinizm","synonyms":["EIHI","SLC16A1 eksikliğine bağlı hiperinsülinizm","Egzersiz kaynaklı hiperinsülinemik hipoglisemi","Monokarboksilat transporter 1 eksikliğine bağlı hiperinsülinizm"]}},"xrefs":[{"source":"OMIM","code":"610021","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E16.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A45","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"999935139"},{"source":"MONDO","code":"0012396","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538376","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864902","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9932","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":309001,"name":"Disorder of carbohydrate absorption and transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"SLC16A1","name":"solute carrier family 16 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17701893[PMID]","hgnc":"10922","ensembl":"ENSG00000155380","omim":"600682","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"17701893[PMID]_1358043[PMID]_11207177[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"17701893[PMID]_1358043[PMID]_11207177[PMID]_ORPHANET"}],"phenotypes":null}