On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT)

Hum Genet. 1994 Feb;93(2):167-9. doi: 10.1007/BF00210604.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • DNA Mutational Analysis
  • DNA Primers
  • Galactosemias / genetics*
  • Genetic Markers
  • Genetic Variation*
  • Genotype
  • Humans
  • Molecular Biology
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • UTP-Hexose-1-Phosphate Uridylyltransferase / genetics*


  • DNA Primers
  • Genetic Markers
  • UTP-Hexose-1-Phosphate Uridylyltransferase