Article
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Human genetics - 1 Feb 1994
Lin H C, Kirby L T, Ng W G, Reichardt J K
Abstract excerpt
Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity. Duarte/galactosemia compound heterozygotes (D/G) are commonly identified in galactosemia newborn screening programs....
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