Article
Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified.
Medicina (Kaunas, Lithuania) - 25 Oct 2020
Rokaitė Rūta, Traberg Rasa, Dženkaitis Mindaugas, Kučinskienė Rūta, Labanauskas Liutauras
Abstract excerpt
Galactosemia is a rare autosomal recessive genetic disorder that causes impaired metabolism of the carbohydrate galactose. This leads to severe liver and kidney insufficiency, central nervous system damage and long-term complications in newborns. We present two clinical cases of classical galactosemia diagnosed at the Lithuanian University of Health Sciences (LUHS) Kaunas Clinics hospital and we compare these...
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