On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT) |
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| Authors: | Hsien-Chin Lin Lorne T. Kirby Won G. Ng Juergen K. V. Reichardt |
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| Affiliation: | (1) Department of Biochemistry and Molecular Biology, University of Southern California School of Medicine, 2011 Zonal Avenue, 90033 Los Angeles, CA, USA;(2) Institute for Genetic Medicine, University of Southern California School of Medicine, 2011 Zonal Avenue, 90033 Los Angeles, CA, USA;(3) Division of Pathology, Children's Hospital, 4480 Oak Street, V6H3V4 Vancouver, BC, Canada;(4) Division of Medical Genetics, Childrens' Hospital Los Angeles, 4650 Sunset Boulevard, 90027 Los Angeles, CA, USA |
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| 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. |
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