{"orpha":723101,"name":"Clinical variant galactosemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A form GALT deficiency characterized by residual GALT activity between 1-10% of control activity. Clinical features are similar to the patients presenting with classic galactosemia, including life threatening complications including feeding problems, failure to thrive, hepatocellular damage include cirrhosis and bleeding in untreated infants. With adequate and early treatment patients do not usually present risk for long-term complications, including premature ovarian insufficiency. Compared to classic galactosemia patients usually are not considered as having a high risk for developmental delay, speech and motor function abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-723101/","orphanet_url":"https://www.orpha.net/en/disease/detail/723101","names":{"fr":{"name":"Galactosémie variante clinique"},"de":{"name":"Klinische Variante der Galaktosämie"},"es":{"name":"Galactosemia variante clínica"},"it":{"name":"Galattosemia variante clinica"},"nl":{"name":"Klinische variant van galactosemie"},"pt":{"name":"Clinical variant galactosemia"},"pl":{"name":"Clinical variant galactosemia"},"cs":{"name":"Clinical 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]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}