Abstract
AbstractGalactosemia 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), liver and renal failure, cataract. Thenewborn metabolic screening plays a decisive role in early detection ofgalactosemia.
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Schedule a callMore From: Romanian Journal of Diabetes Nutrition and Metabolic Diseases
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