Liver failure in newborn – mind galactosemia

Background:Classic galactosemia is a rare autosomal recessive disease caused by galactose-1phosphate uridylyltransferase (GALT) deficiency.GALT converts galactose to glucose, if deficient, galactose-1-phosphate and other metabolites accumulate in the body.The main signs of GALT deficiency are liver failure, susceptibility to E. coli sepsis, and cataracts during the neonatal period.Untreated disease causes early death.Restriction of galactose prevents life-threatening complications.Still, the majority of patients experience longterm chronic complications, such as delayed speech, movement disorders, and ovarian insufficiency in women.