Abstract:Galactosemia is a hereditary metabolic disease, having autosomal recessivetransmission. It can be the result of three distinct enzyme deficits on the path ofgalactose metabolism: Galactose-1-phosphate uridylyltransferase (GALT),Galactokinase and UDP-glucose 4-epimerase (GALE). The symptoms and signsappear in the first 2-3 days of life and has a poor prognosis: repeated haemorrhages,modified liver tests, hepatosplenomegaly, jaundice, sistemic infections, especiallywith gram-negative bacteria (usually E coli), l… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.