{"orpha":723106,"name":"Biochemical variant galactosemia","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Duarte D2 variant","Duarte galactosemia","Duarte variant galactosemia"],"definition":"A form GALT deficiency characterized by high residual GALT activity (typically 25-30% of control activity) in otherwise asymptomatic patients. No follow-up is required.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-723106/","orphanet_url":"https://www.orpha.net/en/disease/detail/723106","names":{"fr":{"name":"Galactosémie variante biochimique","synonyms":["Variante Duarte D2","Galactosémie de Duarte","Galactosémie variante de Duarte"]},"de":{"name":"Biochemische Variante der Galaktosämie","synonyms":["Duarte-D2-Variante","Duarte-Galaktosämie"]},"es":{"name":"Galactosemia variante bioquímica","synonyms":["Galactosemia de Duarte","Galactosemia variante de Duarte","Variante Duarte D2"]},"it":{"name":"Galattosemia variante biochimica","synonyms":["Galattosemia di Duarte","Galattosemia variante Duarte","Variante D2 Duarte"]},"nl":{"name":"Biochemische variant van galactosemie","synonyms":["Duarte-variant van galactosemie","Duarte-galactosemie","Duarte D2-variant"]},"pt":{"name":"Biochemical variant galactosemia"},"pl":{"name":"Biochemical variant galactosemia","synonyms":["Duarte D2 variant","Duarte galactosemia","Duarte variant galactosemia"]},"cs":{"name":"Biochemical variant galactosemia","synonyms":["Duarte D2 variant","Duarte galactosemia","Duarte variant galactosemia"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":723094,"name":"Galactose-1-phosphate uridylyltransferase deficiency","classifications":[150,156,183,188,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}