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On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Department of Biochemistry and Molecular Biology, University of Southern California School of Medicine, Los Angeles 90033.
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.
PMID: 8112740 [PubMed - indexed for MEDLINE]
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Cited by 7 PubMed Central articles
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Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
Carney AE, Sanders RD, Garza KR, McGaha LA, Bean LJ, Coffee BW, Thomas JW, Cutler DJ, Kurtkaya NL, Fridovich-Keil JL.
Hum Mol Genet. 2009 May 1; 18(9):1624-32. Epub 2009 Feb 18.
[Hum Mol Genet. 2009]
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Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.
Jama M, Nelson L, Pont-Kingdon G, Mao R, Lyon E.
J Mol Diagn. 2007 Nov; 9(5):618-23. Epub 2007 Sep 20.
[J Mol Diagn. 2007]
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Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.
Dobrowolski SF, Banas RA, Suzow JG, Berkley M, Naylor EW.
J Mol Diagn. 2003 Feb; 5(1):42-7.
[J Mol Diagn. 2003]
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