{"orpha":723094,"name":"Galactose-1-phosphate uridylyltransferase deficiency","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["GALT deficiency","GALT deficiency galactosemia","Galactose-1-phosphate uridylyltransferase deficiency galactosemia","Galactosemia type 1","Galactosemia type I","Type 1 galactosemia","Type I galactosemia"],"definition":"A group of galactosemias characterized by GALT deficiency and presenting with variable clinical features depending on the residual GALT activity present in affected individuals, going from classic galactosemia manifesting with life-threatening complications triggered by breastfeeding or the ingestion of lactose/galactose-containing formula in untreated infants and long term-complications despite diet (GALT activity <1%), to a less severe phenotype (GALT activity 1-10%) or completely asymptomatic patients (GALT activity 25-30%).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-723094/","orphanet_url":"https://www.orpha.net/en/disease/detail/723094","names":{"fr":{"name":"Déficit en galactose-1-phosphate uridylyltransférase","synonyms":["Déficit en GALT","Galactosémie de type 1","Galactosémie de type I","Galactosémie par déficit en GALT","Galactosémie par déficit en galactose-1-phosphate uridylyltransferase"],"definition":"Groupe de galactosémies caractérisées par un déficit en GALT, dont les signes cliniques chez les personnes atteintes varient en fonction de l'activité résiduelle de la GALT, allant de la galactosémie classique, se traduisant par des complications potentiellement létales chez les nourrissons non traités, déclenchées par l'allaitement maternel ou la consommation de préparations pour nourrissons contenant du lactose ou du galactose, ainsi que par des complications à long terme malgré un régime alimentaire adapté (activité GALT <&nbsp;1&nbsp;%), à un phénotype moins grave (activité GALT comprise entre 1 à 10&nbsp;%) ou à des formes totalement asymptomatiques (activité GALT comprise entre 25 et 30&nbsp;%)."},"de":{"name":"Galaktose-1-Phosphat-Uridyltransferase-Mangel","synonyms":["Galaktosämie durch GALT-Mangel","Galaktosämie durch Galaktose-1-Phosphat-Uridyltransferase-Mangel","GALT-Defizienz","Galaktosämie Typ 1","Galaktosämie Typ I"]},"es":{"name":"Deficiencia de galactosa-1-fosfato uridililtransferasa","synonyms":["Galactosemia por deficiencia de galactosa-1-fosfato uridililtransferasa","Galactosemia tipo 1","Galactosemia tipo I","Deficiencia de GALT","Galactosemia por deficiencia de GALT"]},"it":{"name":"Deficit di galattosio-1-fosfato uridiltransferasi","synonyms":["Deficit di GALT","Galattosemia tipo 1","Galattosemia tipo I","Galattosemia da deficit di GALT","Galattosemia da deficit di galattosio-1-fosfato uridiltransferasi"]},"nl":{"name":"Deficiëntie van galactose-1-fosfaaturidylyltransferase","synonyms":["Galactosemie door GALT-deficiëntie","Type I galactosemie","Type 1 galactosemie","Galactosemie type I","Galactosemie type 1","GALT-deficiëntie","Galactosemie door deficiëntie van galactose-1-fosfaaturidylyltransferase"]},"pt":{"name":"Galactose-1-phosphate uridylyltransferase deficiency"},"pl":{"name":"Galactose-1-phosphate uridylyltransferase deficiency","synonyms":["GALT deficiency","GALT deficiency galactosemia","Galactose-1-phosphate uridylyltransferase deficiency galactosemia","Galactosemia type 1","Galactosemia type I","Type 1 galactosemia","Type I galactosemia"]},"cs":{"name":"Galactose-1-phosphate uridylyltransferase deficiency","synonyms":["GALT deficiency","GALT deficiency galactosemia","Galactose-1-phosphate uridylyltransferase deficiency galactosemia","Galactosemia type 1","Galactosemia type I","Type 1 galactosemia","Type I galactosemia"]}},"xrefs":[],"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":723106,"name":"Biochemical variant galactosemia","type":"Biological anomaly"},{"orpha":79239,"name":"Classic galactosemia","type":"Disease"},{"orpha":723101,"name":"Clinical variant galactosemia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}