title: On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
abstract: 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. However, these patients do not generally require treatment. By using a "candidate mutation" approach to define the molecular basis of the Duarte variant of GALT, a close association between the previously reported N314D polymorphism and the Duarte variant of GALT was found. We suggest that N314D encodes the D variant of GALT and that molecular testing for N314D might be useful to confirm a biochemical diagnosis of Duarte variant of GALT.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Southern California School of Medicine, Los Angeles 90033.
authors.forename: H C
authors.initials: HC
authors.lastname: Lin
authors.forename: L T
authors.initials: LT
authors.lastname: Kirby
authors.forename: W G
authors.initials: WG
authors.lastname: Ng
authors.forename: J K
authors.initials: JK
authors.lastname: Reichardt
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005693:Galactosemias / Q000235:genetics*; D005819:Genetic Markers; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008967:Molecular Biology; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase