{"orpha":79238,"name":"Galactose epimerase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GALE deficiency","GALE deficiency galactosemia","Galactose epimerase deficiency galactosemia","Galactosemia type 3","Galactosemia type III","Type 3 galactosemia","Type III galactosemia","UDP-galactose-4-epimerase deficiency","Uridine diphosphate galactose-4-epimerase deficiency"],"definition":"A rare galactosemia characterized by a spectrum of clinical presentations. In the peripheral form, GALE impairment is restricted to circulating red and white blood cells, with normal or near-normal levels in fibroblasts and/or other tissues (liver, EBV transformed fibroblasts). The intermediate form is defined as a deficient GALE enzyme activity in red and white blood cells, and <&nbsp;50% of normal enzyme levels in fibroblasts and/or other tissues. In generalized GALE deficiency, the enzyme activity is profoundly decreased in all tissues.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79238/","orphanet_url":"https://www.orpha.net/en/disease/detail/79238","names":{"fr":{"name":"Déficit en galactose épimérase","synonyms":["Déficit en GALE","Déficit en UDP-galactose-4-épimérase","Déficit en uridine diphosphate-galactose-4-épimérase","Galactosémie de type 3","Galactosémie de type III","Galactosémie par déficit en GALE","Galactosémie par déficit en UDP-galactose-4-épimérase","Galactosémie par déficit en uridine diphosphate-galactose-4-épimérase","Galactosémie par déficit en galactose épimerase"],"definition":"La galactosémie par déficit en galactose épimérase est une forme très rare de galactosémie caractérisée des signes modérés ou sévères d'anomalies du métabolisme du galactose."},"de":{"name":"Galaktose-Epimerase-Mangel","synonyms":["Epimerase-Mangel, galaktosämischer","GALE-Mangel","Galaktosämie Typ 3","Galaktosämie Typ III","UDP-Galaktose-4-Epimerase-Mangel"],"definition":"Der Galaktose-Epimerase-Mangel ist eine sehr seltene, moderate bis schwere Form der Galaktosämie (siehe dort) und gekennzeichnet durch moderate bis schwere Zeichen eines gestörten Galaktose-Stoffwechsels."},"es":{"name":"Deficiencia de galactosa epimerasa","synonyms":["Galactosemia tipo III","Deficiencia de uridina difosfato galactosa-4-epimerasa","Galactosemia por deficiencia de galactosa epimerasa","Galactosemia tipo 3","Galactosemia por deficiencia de GALE","Deficiencia de GALE","Deficiencia de UDP-galactosa-4-epimerasa"],"definition":"Es una forma muy rara, entre moderada y grave, de galactosemia caracterizada por signos de moderados a graves de de las alteraciones en el metabolismo de la galactosa."},"it":{"name":"Deficit di galattosio epimerasi","synonyms":["Galattosemia da deficit di galattosio epimerasi","Deficit di GALE","Galattosemia tipo 3","Deficit di uridina difosfato galattosio-4-epimerasi","Galattosemia tipo III","Galattosemia con deficit di epimerasi","Galattosemia da deficit di GALE"],"definition":"Il deficit di galattosio epimerasi è una forma moderata-grave molto rara di galattosemia (si veda questo termine) caratterizzata dai segni moderati-gravi di un'alterazione del metabolismo del galattosio."},"nl":{"name":"Deficiëntie van galactose-epimerase","synonyms":["Type 3 galactosemie","Deficiëntie van UDP-galactose-4-epimerase","Deficiëntie van uridinedifosfaatgalactose-4-epimerase","GALE-deficiëntie","Galactosemie door GALE-deficiëntie","Galactosemie door deficiëntie van galactose-epimerase","Galactosemie type III","Galactosemie type 3","Type III galactosemie"],"definition":"Een zeer zeldzame, matige tot ernstige vorm van galactosemie gekarakteriseerd door matige tot ernstige tekenen van verstoord galactosemetabolisme."},"pt":{"name":"Deficiência de UDP-galactose-4-epimerase","definition":"A deficiência de galactose epimerase é uma forma de galactosemia (ver este termo) moderada a grave, muito rara, caracterizada por sinais ligeiros a graves de compromisso do metabolismo da galactose."},"pl":{"name":"Niedobór epimerazy galaktozy","synonyms":["Galaktozemia typu 3","Galaktozemia z niedoboru epimerazy","GALE-D","Niedobór GALE","Niedobór UDP-galaktozo-4-epimerazy","Niedobór urydynodifosforogalaktozo-4-epimerazy"]},"cs":{"name":"Deficit galaktózaepimerázy","synonyms":["Deficit GALE","GALE-D","Galaktosémie, typ 3","Deficit UDP-galaktóza-4-epimerázy","Deficit uridindifosfát-galaktóza-4-epimerázy","Galaktosémie způsobená deficitem epimerázy"]},"uk":{"name":"Дефіцит галактозної епімерази","synonyms":["Галактоземія внаслідок дефіциту епімерази","Галактоземія типу 3","Дефіцит GALE","GALE-D","Дефіцит УДФ-галактозо-4-епімерази","Дефіцит уридиндифосфат-галактозо-4-епімерази"],"definition":"A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism."},"zh":{"name":"半乳糖表异构酶缺乏","synonyms":["尿苷二磷酸半乳糖-4-差向异构酶缺乏症"]},"tr":{"name":"Galaktoz epimeraz eksikliği","synonyms":["GALE-D","GALE eksikliği","Galaktozemi tip 3","Epimeraz eksikliği galaktozemi","UDP-galaktoz-4-epimeraz eksikliği","Üridin difosfat galaktoz-4-epimeraz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"230350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"621563399"},{"source":"MONDO","code":"0009257","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751161","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5392","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":352,"name":"Galactosemia","classifications":[150,156,188,189]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[{"orpha":308473,"name":"Erythrocyte galactose epimerase deficiency","type":"Clinical subtype"},{"orpha":308487,"name":"Generalized galactose epimerase deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GALE","name":"UDP-galactose-4-epimerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4116","ensembl":"ENSG00000117308","omim":"606953","loci":["1p36.11"],"via":{"orpha":308473,"name":"Erythrocyte galactose epimerase deficiency"}},{"symbol":"GALE","name":"UDP-galactose-4-epimerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4116","ensembl":"ENSG00000117308","omim":"606953","loci":["1p36.11"],"via":{"orpha":308487,"name":"Generalized galactose epimerase deficiency"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"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":"2016-06-01","source":"21290786[PMID]","terms":[{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004915","label":"Impairment of galactose metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null}]}}