GALACTOSEMIA: DIAGNOSIS AND TREATMENT

  • Nakisa Serafinceanu
  • Ionuț Cristian Cucu
  • Cristian Serafinceanu
Keywords: galactosemia, newborn genetic screening, diagnostic, treatment

Abstract

Galactosemia is a hereditary metabolic disease, having autosomal recessive transmission. It can be the result of three distinct enzyme deficits on the path of galactose metabolism: Galactose-1-phosphate uridylyltransferase (GALT), Galactokinase and UDP-glucose 4-epimerase (GALE). The symptoms and signs appear in the first 2-3 days of life and has a poor prognosis: repeated haemorrhages, modified liver tests, hepatosplenomegaly, jaundice, sistemic infections, especially with gram-negative bacteria (usually E coli), liver and renal failure, cataract. The newborn metabolic screening plays a decisive role in early detection of galactosemia.

Published
2012-05-31
How to Cite
Serafinceanu, Nakisa, Ionuț Cucu, and Cristian Serafinceanu. 2012. “GALACTOSEMIA: DIAGNOSIS AND TREATMENT”. Romanian Journal of Diabetes Nutrition and Metabolic Diseases 19 (2), 215-18. https://rjdnmd.org/index.php/RJDNMD/article/view/283.
Section
Review Articles