Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency

Clinica Chimica Acta

Volumn 411, Issue 19-20, 2010, Pages 1506-1510

  Ko, Dae Hyun ^a   Chang, Ho Eun ^b   Song, Sang Hoon ^b   Park, Kyoung Un ^a,b   Kim, Jin Q ^a   Kim, Min Chang ^c   Song, Young Han ^c   Hong, Yong Hee ^d   Lee, Dong Hwan ^d   Song, Junghan ^a,b  

^a Seoul National University College of Medicine   (South Korea)

^b Seoul National University Bundang Hospital   (South Korea)

^c Hallym University   (South Korea)

^d Soonchunhyang University   (South Korea)

Author keywords

Galactose 1 phosphate uridyltransferase; Galactosemia; Mutation

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; GENOMIC DNA;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; ETHNIC GROUP; EXON; GALACTOSEMIA; GENE EXPRESSION; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INTRON; KOREAN; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; URIDINE TRIPHOSPHATE HEXOSE 1 PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; WESTERN BLOTTING;

DNA MUTATIONAL ANALYSIS; EXONS; GALACTOSEMIAS; GENETIC VARIATION; GENOME, HUMAN; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; KOREA; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 77955053419     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.06.008     Document Type: Article

References (21)

1. Petry K., Reichardt J. The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry. Trends Genet 1998, 14:98-102.
2. Novelli G., Reichardt J. Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab 2000, 71:62-65.
3. Holden H., Thoden J., Timson D., Reece R. Galactokinase: structure, function and role in type II galactosemia. Cell Mol Life Sci 2004, 61:2471-2484.
4. Langley S.D., Lai K., Dembure P.P., Hjelm L.N., Elsas L.J. Molecular basis for Duarte and Los Angeles variant galactosemia. Am J Hum Genet 1997, 60:366-372.
5. Ficicioglu C., Yager C., Segal S. Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype. Mol Genet Metab 2005, 84:152-159.
6. Ficicioglu C., Thomas N., Yager C., et al. Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. Mol Genet Metab 2008, 95:206-212.
7. Lee D.H. The prevalence of pediatric endocrine and metabolic diseases in Korea. Korean J Pediatr 2008, 51:559-563.
8. Park H., Park K., Kim J., et al. The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. Genet Med 2005, 7:646-649.
9. Park H., Bang Y., Park K., et al. Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency. Mol Genet Metab 2007, 91:234-238.
10. Shin Y.S. Galactose metabolites and disorders of galactose metabolism. Techniques in diagnostic human biochemical genetics 1991, 267-283. Wiley-Liss, Inc, New York. F.A. Hommes (Ed.).
11. Calderon F., Nelson L., Dobrowolski P., et al. Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. J Inherit Metab Dis 2007, 30:818.
12. Ko D., Jun S., Park H., et al. Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry. Clin Chem 2010, 56:764-771.
13. Tyfield L., Reichardt J., Fridovich-Keil J., et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat 1999, 13:417-430.
14. Ng W., Xu Y., Kaufman F., et al. Biochemical and molecular studies of 132 patients with galactosemia. Hum Genet 1994, 94:359-363.
15. Elsas L., Langley S., Steele E., et al. Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet 1995, 56:630-639.
16. Lai K., Langley S., Singh R., Dembure P., Hjelm L., Elsas Ln. A prevalent mutation for galactosemia among black Americans. J Pediatr 1996, 128:89-95.
17. Cheung K., Tang N., Hsiao K., et al. Classical galactosaemia in Chinese: a case report and review of disease incidence. J Paediatr Child Health 1999, 35:399-400.
18. Hirokawa H., Okano Y., Asada M., Fujimoto A., Suyama I., Isshiki G. Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients. Eur J Hum Genet 1999, 7:757-764.
19. Riehman K., Crews C., Fridovich-Keil J. Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase. J Biol Chem 2001, 276:10,634-10,640.
20. Suzuki M., West C., Beutler E. Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. Hum Genet 2001, 109:210-215.
21. Jama M., Nelson L., Pont-Kingdon G., Mao R., Lyon E. Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene. J Mol Diagn 2007, 9:618-623.