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On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Hum Genet. 1994 Feb; 93(2):167-9.HG

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+Show Affiliations

Department of Biochemistry and Molecular Biology, University of Southern California School of Medicine, Los Angeles 90033.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8112740

Citation

Lin, H C., et al. "On the Molecular Nature of the Duarte Variant of Galactose-1-phosphate Uridyl Transferase (GALT)." Human Genetics, vol. 93, no. 2, 1994, pp. 167-9.
Lin HC, Kirby LT, Ng WG, et al. On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT). Hum Genet. 1994;93(2):167-9.
Lin, H. C., Kirby, L. T., Ng, W. G., & Reichardt, J. K. (1994). On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT). Human Genetics, 93(2), 167-9.
Lin HC, et al. On the Molecular Nature of the Duarte Variant of Galactose-1-phosphate Uridyl Transferase (GALT). Hum Genet. 1994;93(2):167-9. PubMed PMID: 8112740.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT). AU - Lin,H C, AU - Kirby,L T, AU - Ng,W G, AU - Reichardt,J K, PY - 1994/2/1/pubmed PY - 1994/2/1/medline PY - 1994/2/1/entrez SP - 167 EP - 9 JF - Human genetics JO - Hum Genet VL - 93 IS - 2 N2 - 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. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/8112740/On_the_molecular_nature_of_the_Duarte_variant_of_galactose_1_phosphate_uridyl_transferase__GALT__ DB - PRIME DP - Unbound Medicine ER -