{"orpha":352,"name":"Galactosemia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a wide range of variable manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352/","orphanet_url":"https://www.orpha.net/en/disease/detail/352","names":{"fr":{"name":"Galactosémie","definition":"La galactosémie est un groupe de maladies métaboliques génétiques rares caractérisée par des anomalies du métabolisme du galactose responsables de diverses manifestations et comprenant une maladie sévère pouvant mettre en jeu le pronostic vital (galactosémie classique), une forme légère et plus rare responsable de cataracte (déficit en galactokinase) ainsi qu'une forme très rare de sévérité variable (déficit en galactose épimérase) ressemblant dans sa forme sévère à la galactosémie classique."},"de":{"name":"Galaktosämie","definition":"Galaktosämie ist die Bezeichnung für eine Gruppe seltener genetischer Stoffwechselkrankheiten mit gestörtem Stoffwechsel der Galaktose. Hieraus resultieren unterschiedliche klinische Bilder: (i) eine schwere, lebensbedrohliche Krankheit, die klassische Galaktosämie; (ii) eine seltene milde Form, der Galaktokinase-Mangel, mit Katarakt und (iii) eine sehr seltene Form mit unterschiedlichem Schweregrad, der Galaktose-Epimerase-Mangel, der in seiner schweren Form der klassischen Galaktosämie ähnelt (s. diese Termini)."},"es":{"name":"Galactosemia","definition":"La galactosemia constituye un grupo de raros trastornos genéticos del metabolismo de la galactosa que inducen una serie de manifestaciones clínicas variables, incluyendo una forma muy grave de la enfermedad (galactosemia clásica), una forma leve menos frecuente que la anterior (déficit de galactoquinasa) que provoca únicamente cataratas, y una forma todavía mas rara (déficit de galactosa epimerasa) de gravedad variable que, en su forma grave, se asemeja a la galactosemia clásica."},"it":{"name":"Galattosemia","definition":"La galattosemia comprende un gruppo di malattie metaboliche genetiche rare, caratterizzate da un difetto del metabolismo del galattosio, che comporta una serie di sintomi variabili, che comprendono una malattia grave potenzialmente fatale (galattosemia classica), una forma lieve rara (deficit di galattochinasi) con cataratta, e una forma molto rara di gravità variabile (deficit di galattosio epimerasi), simile alla forma grave della galattosemia classica (si vedano questi termini)."},"nl":{"name":"Galactosemie","definition":"Galactosemie is een groep van zeldzame erfelijke metabole aandoeningen gekenmerkt door een verstoord galactosemetabolisme, dat resulteert in een reeks van variabele manifestaties, zoals een ernstige, levensbedreigende ziekte (klassieke galactosemie), een zeldzame milde vorm (galactokinasedeficiëntie) die cataract veroorzaakt, en een zeer zeldzame vorm met een variabele ernst (galactose-epimerasedeficiëntie) die lijkt op klassieke galactosemie in de ernstige vorm (zie deze termen)."},"pt":{"name":"Galactosemia","definition":"A galactosemia é um grupo de doenças metabólicas genéticas raras caracterizadas por compromisso do metabolismo da galactose, resultando numa série de manifestações variáveis que engloba uma doença grave, com risco de vida (galactosemia clássica), uma forma rara ligeira (deficiência da galactoquinase) causando cataratas, e uma forma muito rara com gravidade variável (deficiência de galactose epimerase), semelhante à galactosemia clássica na forma grave (ver estes termos)."},"pl":{"name":"Galaktozemia","definition":"Galaktozemia to grupa rzadkich, genetycznie uwarunkowanych wad metabolizmu, które charakteryzują się nieprawidłowym metabolizmem galaktozy, co powoduje szereg różnorodnych objawów, w tym ciężką, zagrażającą życiu chorobę (klasyczną galaktozemię), rzadką postać łagodną (niedobór galaktokinazy) powodującą zaćmę oraz bardzo rzadką postać o zmiennym nasileniu (niedobór epimerazy galaktozowej), która przypomina klasyczną galaktozemię w jej ciężkiej postaci (zobacz te hasła)."},"cs":{"name":"Galaktosémie"},"uk":{"name":"Галактоземія","definition":"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)."},"zh":{"name":"半乳糖血症"},"tr":{"name":"Galaktozemi"}},"xrefs":[{"source":"ICD-11","code":"5C51.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2080157631"},{"source":"MONDO","code":"0018116","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18116","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005693","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016952","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2424","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10017604","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":308467,"name":"Disorder of galactose metabolism","classifications":[150,156]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]}],"children":[{"orpha":79237,"name":"Galactokinase deficiency","type":"Disease"},{"orpha":79238,"name":"Galactose epimerase deficiency","type":"Disease"},{"orpha":570422,"name":"Galactose mutarotase deficiency","type":"Disease"},{"orpha":723094,"name":"Galactose-1-phosphate uridylyltransferase deficiency","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"United States","status":"Validated","source":"22766612[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"}],"phenotypes":null}