LAUSR

Hereditary galactosemia.

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0 Published in 2018 at "Metabolism: clinical and experimental"

DOI: 10.1016/j.metabol.2018.01.025

Abstract: Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal… read more here.

Keywords: galactosemia; classic galactosemia; hereditary galactosemia; deficiency ... See more keywords