{"orpha":469,"name":"Hereditary fructose intolerance","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary fructose-1-phosphate aldolase deficiency","Hereditary fructosemia"],"definition":"Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-469/","orphanet_url":"https://www.orpha.net/en/disease/detail/469","names":{"fr":{"name":"Intolérance au fructose héréditaire","synonyms":["Déficit héréditaire en fructose-1-phosphate aldolase","Fructosémie congénitale"],"definition":"L'intolérance héréditaire au fructose (IHF) est une pathologie autosomique récessive liée au métabolisme du fructose. Elle résulte d'un déficit de l'activité de l'enzyme fructose-1-phosphate aldolase hépatique et conduit à des troubles gastro-intestinaux et à une hypoglycémie postprandiale après ingestion de fructose. L'IHF est une affection bénigne lorsqu'elle est traitée. Elle met en jeu le pronostic vital et peut être fatale si un traitement n'est pas initié."},"de":{"name":"Fruktoseintoleranz, hereditäre","synonyms":["Fructose-1-Phosphataldolase-Mangel, hereditärer","Fruktosämie, hereditäre"],"definition":"Die hereditäre Fruktoseintoleranz (HFI) ist eine autosomal-rezessive Störung des Fruktosestoffwechsels (siehe dort), die auf einen Mangel an hepatischer Fruktose-1-Phosphat-Aldolase-Aktivität zurückzuführen ist und nach der Aufnahme von Fruktose zu gastrointestinalen Störungen und postprandialer Hypoglykämie führt. HFI ist eine gutartige Erkrankung, wenn sie behandelt wird, aber sie ist lebensbedrohlich und kann zum Tod führen, wenn sie unbehandelt bleibt."},"es":{"name":"Intolerancia hereditaria a la fructosa","synonyms":["Deficiencia hereditaria de fructosa-1-fosfato aldolasa","Fructosemia hereditaria"],"definition":"La intolerancia hereditaria a la fructosa (IHF) es un trastorno autosómico recesivo del metabolismo de la fructosa, producido por la deficiencia de la actividad fructosa 1-fosfato aldolasa hepática que conduce a trastornos gastrointestinales e hipoglucemia postprandial siguiendo la ingesta de fructosa. La IHF es una condición benigna cuando se trata, pero pone en riesgo la vida y es potencialmente fatal en ausencia de tratamiento."},"it":{"name":"Intolleranza ereditaria al fruttosio","synonyms":["Deficit ereditario di fruttosio-1-fosfato aldolasi","Fruttosemia ereditaria"],"definition":"L'intolleranza ereditaria al fruttosio (HFI) è una malattia autosomica recessiva del metabolismo del fruttosio, causata dal deficit dell'attività epatica del fruttosio-1-fosfato aldolasi, che comporta una malattia gastrointestinale e ipoglicemia postprandiale secondarie all'ingestione di fruttosio. La HFI è una malattia benigna se trattata, ma può essere letale in assenza di trattamento."},"nl":{"name":"Erfelijke fructose-intolerantie","synonyms":["Erfelijke fructose-1,6-bifosfaataldolase B-deficiëntie","Erfelijke fructose-1-fosfaataldolasedeficiëntie","Erfelijke fructosemie"],"definition":"Erfelijke fructose-intolerantie (HFI) is een autosomaal recessieve stoornis van het fructosemetabolisme die het gevolg is van een deficiëntie van de activiteit van hepatisch fructose-1-fosfaataldolase en die leidt tot gastro-intestinale stoornissen en postprandiale hypoglykemie na ingestie van fructose. HFI is een goedaardige aandoening mits behandeling, maar is levensbedreigend en mogelijk fataal zonder behandeling."},"pt":{"name":"Intolerância à frutose hereditária","synonyms":["Deficiência hereditária de frutose-1-fosfato aldolase","Frutosemia hereditária"],"definition":"A intolerância hereditária à frutose (IHF) é uma doença autossómica recessiva do metabolismo da frutose, resultante da deficiência da atividade da enzima frutose-1-fosfato aldolase hepática, que leva a distúrbios gastrointestinais e hipoglicemia pós-prandial após a ingestão de frutose. A IHF é uma condição benigna quando tratada, mas é potencialmente fatal se não for tratada."},"pl":{"name":"Dziedziczna nietolerancja fruktozy","synonyms":["Dziedziczna fruktozemia","Dziedziczny Niedobór aldolazy fruktozo-1-fosforanu"],"definition":"Dziedziczna nietolerancja fruktozy to zaburzenie metabolizmu fruktozy (sprawdź to hasło), dziedziczone w sposób autosomalny recesywny, związane z niedoborem aktywności aldolazy fruktozo-1-fosforanowej w wątrobie i prowadzące do zaburzeń żołądkowo-jelitowych oraz hipoglikemii poposiłkowej po spożyciu fruktozy. Leczona nietolerancja fruktozy jest chorobą łagodną, zaś nieleczona zagraża życiu i potencjalnie prowadzi do śmierci."},"cs":{"name":"Hereditární intolerance fruktózy","synonyms":["Hereditární deficit fruktóza-1-fosfátaldolázy","Dědičná fruktosemie"]},"uk":{"name":"Спадкова непереносимість фруктози","synonyms":["Спадковий дефіцит фруктозо-1-фосфат-альдолази","Спадкова фруктоземія"],"definition":"Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated."},"zh":{"name":"遗传性果糖不耐受症","synonyms":["遗传性果糖-1-磷酸醛缩酶缺乏症"]},"tr":{"name":"Kalıtsal fruktoz intoleransı","synonyms":["Kalıtsal fruktozemi","Kalıtsal fruktoz-1-fosfat aldolaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"229600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C51.50","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1925240365"},{"source":"MONDO","code":"0009249","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005633","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016751","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6622","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019878","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":104003,"name":"Congenital intestinal transport defect","classifications":[152,156,233]},{"orpha":309001,"name":"Disorder of carbohydrate absorption and transport","classifications":[150,156]},{"orpha":308463,"name":"Disorder of fructose metabolism","classifications":[150,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"ALDOB","name":"aldolase, fructose-bisphosphate B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20848650[PMID]","hgnc":"417","ensembl":"ENSG00000136872","omim":"612724","loci":["9q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Switzerland","status":"Validated","source":"15880727[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Switzerland","status":"Validated","source":"15880727[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"United Kingdom","status":"Not yet validated","source":"12042775[PMID]_15880727[PMID]_8933337[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"United Kingdom","status":"Not yet validated","source":"12042775[PMID]_15880727[PMID]_8933337[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Germany","status":"Validated","source":"15880727[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Germany","status":"Validated","source":"15880727[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Poland","status":"Not yet validated","source":"16406649[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Poland","status":"Validated","source":"16406649[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.5,"area":"Finland","status":"Not yet validated","source":"14565820[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.753,"area":"United States","status":"Validated","source":"20033295[PMID]_36028839[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Specific population","status":"Validated","source":"36028839[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1981,"area":"China","status":"Validated","source":"36028839[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-18","source":"26677512[PMID]_28368361[PMID]_29552600[PMID]_9610797[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012545","label":"Reduced aldolase level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100626","label":"Chronic hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001069","label":"Episodic hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002918","label":"Hypermagnesemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012051","label":"Reactive hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}