Galactosemia: A Korean Patient and Literature Review
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Yu, Seung Woo
(Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University)
Gang, Mi Hyeon (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) Lee, Yong Wook (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) Chang, Mea Young (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) Levy, Harvey L. (Division of Genetics and Genomics, Children's Hospital, Harvard Medical School) Kim, Sook Za (Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University) |
1 | Bosch AM. Classical galactosemia revisited. J Inherit Metab Dis 2006;29:516-25. DOI |
2 |
Berry GT. Classic galactosemia and clinical variant galactosemia. |
3 | Gort L, Boleda MD, Tyfield L, Vilarinho L, Rivera I, Cardoso ML, et al. Mutational spectrum of classical galactosaemia in Spain and Portugal. J Inherit Metab Dis 2006;29:739-42. DOI |
4 | Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas LJ, Strobl W, et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat. 1999;13:417-30. DOI |
5 | Lai K, Langley SD, Singh RH, Dembure PP, Hjelm LN, Elsa, LJ. A prevalent mutation for galactosemia among black Americans. J Pediatr. 1996;128:89-95. DOI |
6 | 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;7:757-64. DOI |
7 | Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, et al. Molecular characterization of galactosemia (type 1) mutations in Japanese. Hum Mutat 1995;6:36-43. DOI |
8 | Lee BH, Cheon CK, Kim JM, Kang M, Kim JH, Yang SH, et al. Low prevalence of classical galactosemia in Korean population. J Hum Genet 2011;56:94-6. DOI |
9 | Choi R, Jo KI, Ko DH, Lee DH, Song J, Jin DK, et al. Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity. BMC Med Genet 2014;15:94. DOI |
10 | Young BS. Diagnostic algorithm of newborn screening for galactosemia. J Korean Soc Inher Metab Dis 2015;15:101-9. |
11 | Cheon CK, Cho MS, Ko JM, Kim GH, Yoo HW. A case of classical galactosemia caused by compound heterozygous mutations of the GALT gene. J Genet Med 2008;5:131-5. |
12 | Lafleur JP, Senkbeil S, Novotny J, Nys G, Bogelund N, Rand KD, et al. Rapid and simple preparation of thiol-ene emulsion-templated monoliths and their application as enzymatic microreactors. Lab Chip 2015;15:2162-72. DOI |
13 | Adam BW, Flores SR, Hou Y, Allen TW, De Jesus VR. Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests. Clin Biochem 2015;48:437-42. DOI |
14 | Palmieri M, Mazur A, Berry GT, Ning C, Wehrli S, Yager C, et al. Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. Metabolism 1999;48:1294-302. DOI |
15 | Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol 1975;94:441-8. DOI |
16 | Holton JB, Walter JH, Tyfield LA. Galactosemia. In: Stansbury J, Wyngarden J, Fredrickson D, Goldstein JL, Brown US, editors. 8th ed. New York: McGraw Hill, 1992;1553-85. |
17 | Segal S, Berry GT. Disorder of galactose metabolism. In: Stansbury J, Wyngarden J, Fredrickson D, Goldstein JL, Brown US, editors. 7th ed. New York: McGraw Hill, 1990;967-90. |
18 | Levy HL, Sepe SJ, Shih VE, Vawter GF, Klein JO. Sepsis due to Escherichia coli in neonates with galactosemia. N Engl J Med 1977;297:823-5. DOI |
19 | Park IS, Cho HJ, Lee DH, Song JH. Galactosemia detected by neonatal screening test. J Korean Pediatr Soc 2003;46:440-6. |
20 | Jama M, Nelson L, Mao R, Lyon E. Simultaneous Amplification, Detection, and Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene. J Mol Diagn 2007;9:618-23. DOI |
21 | Waggoner DD, Buist NRM, Donnell GN. Long-term prognosis in galactosemia: Results of a survey of 350 cases. J Inherit Metab Dis 1999;13:802. DOI |
22 | Berry GT, Leslie N, Reynolds R, Yager CT, Segal S. Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene. Mol Genet Metab 2001;72:316-21. DOI |
23 | Schadewaldt P, Hammen H-W, Stolpmann S, Kamalanathan L, Wendel U. Galactonate determination in urine by stable isotope dilution gas chromatographymass spectrometry. J Chromatogr B 2004;801:249-55. DOI |
24 | Bosch AM. Classic galactosemia: dietary dilemmas. J Inherit Metab Dis 2011;34:257-60. DOI |
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