Browse > Article

A Diagnostic Algorithm of Newborn Screening for Galactosemia  

Sohn, Young Bae (Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.15, no.3, 2015 , pp. 101-109 More about this Journal
Abstract
Classic galactosemia (OMIM #230400) is an autosomal recessive inherited metaboic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) due to mutations in the GALT gene. If untreated, classic galactosemia is a potentially lethal disease presenting with poor feeding, vomiting, jaundice, liver failure, increased bleeding tendency, and septicemia leading to death within a few days after birth. Since 2006, expansion of newborn screening has been enabled the early diagnosis and early intervention of classic galactosemia in Korea. However, newborn screening, followup testing for confirmatory diagnosis and intervention for galactosemia continue to present challenges. In Korea, the prevalence of the classic galactosemia is considered relatively low compared to that of western countries. And the genotype is also clearly different from those of other population. Therefore, our own guideline for confirmatory diagnosis and intervention is needed. Here, the diagnostic algorithm for galactosemia after positive newborn screening result in Korea has been proposed. Considering the low prevalence and different mutation spectrum in Koreans, the early mutation analysis of GALT gene could be a useful tool for the accurate diagnosis and making any treatment decision.
Keywords
Newborn screening; Galactosemia; Galactose 1-phosphate uridyltransferase; GALT;
Citations & Related Records
Times Cited By KSCI : 1  (Citation Analysis)
연도 인용수 순위
1 Porta F, Pagliardini S, Pagliardini V, Ponzone A, Spada M. Newborn screening for galactosemia: a 30-year single center experience. World J Pediatr 2015;11: 160-4.   DOI
2 Ko DH, Chang HE, Song SH, Park KU, Kim JQ, Kim MC, et al. Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency. Clin Chim Acta 2010;411:1506-10.   DOI
3 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
4 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.
5 Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil JL, Elsas LJ. The human galactose-1-phosphate uridyltransferase gene. Genomics 1992;14:474-80.   DOI
6 Bosch AM. Classical galactosaemia revisited. J Inherit Metab Dis 2006;29:516-25.   DOI
7 Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, et al. The adult galactosemic phenotype. J Inherit Metab Dis 2012;35:279-86.   DOI
8 Suzuki M, West C, Beutler E. Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. Hum Genet 2001;109:210-5.   DOI
9 Ficicioglu C, Thomas N, Yager C, Gallagher PR, Hussa C, Mattie A, et al. Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. Mol Genet Metab 2008;95:206-12.   DOI
10 Powell KK, Van Naarden Braun K, Singh RH, Shapira SK, Olney RS, Yeargin-Allsopp M. Long-term speech and language developmental issues among children with Duarte galactosemia. Genet Med 2009;11:874-9.   DOI
11 Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL. Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead. JIMD Rep 2015;15:79-93.
12 Walter JH, Roberts RE, Besley GT, Wraith JE, Cleary MA, Holton JB, et al. Generalised uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child 1999;80:374-6.   DOI
13 https://www.acmg.net/StaticContent/ACT/Algorithms/Visio-hypergalactosemia.pdf.
14 https://www.acmg.net/StaticContent/ACT/Algorithms/Visio-GALT.pdf.
15 Lee DH. Newborn screening of inherited metabolic disease in Korea. J Koera Pediatr Soc 2006;49:1125-39.   DOI
16 Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, et al. Identification of novel mutations in classical galactosemia. Hum Mutat 2005;25:502.
17 Lai K, Langley SD, Singh RH, Dembure PP, Hjelm LN, Elsas LJ, 2nd. A prevalent mutation for galactosemia among black Americans. J Pediatr 1996;128:89-95.   DOI
18 Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, et al. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis 2012;35:1037-49.   DOI
19 Elsas LJ, 2nd, Lai K. The molecular biology of galactosemia. Genet Med 1998;1:40-8.   DOI
20 Coffee B, Hjelm LN, DeLorenzo A, Courtney EM, Yu C, Muralidharan K. Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene. Genet Med 2006;8:635-40.   DOI
21 Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas LJ, 2nd, Strobl W, et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat 1999;13:417-30.   DOI
22 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
23 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
24 Fernhoff PM. Duarte galactosemia: how sweet is it? Clin Chem 2010;56:1045-6.   DOI
25 Ficicioglu C, Hussa C, Gallagher PR, Thomas N, Yager C. Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate. Clin Chem 2010;56:1177-82.   DOI