Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia

Abstract excerpt

Hereditary galactosemia is an autosomal recessive genetic disorder of carbohydrate metabolism (OMIM 230400; Fridovich-Keil and Walter 2008; Elsas 2010; Berry and Walter 2011). The mutated gene encodes a protein, galactose-1-phosphate uridyltransferase (GALT, EC 2.7.7.12), that catalyzes the conversion of galactose-1-phosphate and UDP-glucose to UDP-galactose and glucose-1-phosphate (Fig. 1). In the newborn...

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