{"orpha":348,"name":"Fructose-1,6-bisphosphatase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FBPase deficiency","Fructose-1,6-diphosphatase deficiency"],"definition":"Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-348/","orphanet_url":"https://www.orpha.net/en/disease/detail/348","names":{"fr":{"name":"Déficit en fructose-1,6-diphosphatase","synonyms":["Déficit en FBPase","Déficit en fructose-1,6-bisphosphatase"],"definition":"Un trouble du métabolisme du fructose caractérisé par des épisodes récurrents d'hypoglycémie à jeun avec acidose lactique, et pouvant mettre en jeu le pronostic vital chez les nouveau-nés et les nourrissons."},"de":{"name":"Fruktose-1,6-Bisphosphatase-Mangel","synonyms":["FBPase-Mangel","Fruktose-1,6-Diphosphatase-Mangel"],"definition":"Fructose-1,6-Biphosphatase (FBP)-Mangel ist eine Störung des Fructosestoffwechsels, die durch wiederkehrende Episoden von Nüchternhypoglykämie mit Laktatazidose gekennzeichnet ist, die bei Neugeborenen und Säuglingen lebensbedrohlich sein kann."},"es":{"name":"Deficiencia de fructosa-1,6 bifosfatasa","synonyms":["Deficiencia de FBPasa","Deficiencia de fructosa-1,6 difosfatasa"],"definition":"La deficiencia de fructosa-1,6 difosfatasa (FBP) es un trastorno del metabolismo de la fructosa caracterizado por episodios recurrentes de hipoglucemia en ayunas con acidosis láctica, que puede poner en riesgo la vida en neonatos y lactantes."},"it":{"name":"Deficit di fruttosio 1,6-difosfatasi","definition":"Il deficit di fruttosio 1,6-bifosfatasi (FBP) è una malattia del metabolismo del fruttosio, caratterizzata da episodi ricorrenti di ipoglicemia con acidosi lattica dopo il digiuno, che possono essere letali nei neonati e nei bambini."},"nl":{"name":"Fructose-1,6-bisfosfatasedeficiëntie","synonyms":["FBPase-deficiëntie","Fructose-1,6-difosfatasedeficiëntie"],"definition":"Fructose-1,6-bisfosfatase (FBP)-deficiëntie is een stoornis van het fructosemetabolisme en wordt gekarakteriseerd door terugkerende episodes van nuchtere hypoglykemie met lactaatacidose, die levensbedreigend kan zijn voor neonaten en zuigelingen."},"pt":{"name":"Deficiência de frutose-1,6-bisfosfatase"},"pl":{"name":"Niedobór fruktozo-1,6-difosfatazy","synonyms":["FBPase deficiency","Fructose-1,6-diphosphatase deficiency"]},"cs":{"name":"Deficit fruktóza-1,6-bisfosfatázy","synonyms":["FBPase deficiency","Fructose-1,6-diphosphatase deficiency"]},"uk":{"name":"Дефіцит фруктозо-1,6-бісфосфатази","synonyms":["Дефіцит FBPази","Дефіцит фруктозо-1,6-дифосфатази"],"definition":"Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants."},"zh":{"name":"果糖-1,6-二磷酸酶缺乏症","synonyms":["果糖-1,6-二磷酸酶缺乏"]},"tr":{"name":"Fruktoz-1,6-bisfosfataz eksikliği","synonyms":["FBPase eksikliği","Fruktoz-1,6-difosfataz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"229700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2128680017"},{"source":"MONDO","code":"0009251","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015319","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016756","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2400","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081516","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":308463,"name":"Disorder of fructose metabolism","classifications":[150,156]},{"orpha":79177,"name":"Gluconeogenesis disorder","classifications":[150,156]}],"children":[],"genes":[{"symbol":"FBP1","name":"fructose-bisphosphatase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9382095[PMID]_12126934[PMID]_24007283[PMID]","hgnc":"3606","ensembl":"ENSG00000165140","omim":"611570","loci":["9q22.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.67,"area":"Italy","status":"Validated","source":"11953730[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-19","source":"25601412[PMID]_28420223[PMID]_9382095[PMID]_1995492[PMID]_2347355[PMID]_4341015[PMID]_4193749[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004913","label":"Intermittent lactic acidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005949","label":"Apneic episodes in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002876","label":"Episodic tachypnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040301","label":"Increased urinary glycerol","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004879","label":"Intermittent hyperventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001946","label":"Ketosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006582","label":"Reye syndrome-like episodes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003348","label":"Hyperalaninemia","frequency":"Very rare (<4-1%)","criteria":null}]}}