Low prevalence of classical galactosemia in Korean population

Abstract

This study described the clinical and molecular genetic features of classical galactosemia in Korean population to contribute to the insight in the spectrum of galactosemia in the world, as little is known about the spectrum and incidence of galactosemia in Asia. During the 11-year study period, only three Korean children were identified as having classical galactosemia on the basis of the enzymatic and molecular genetic analysis. Asians have been reported to have mutations distinct from those of Caucasians and African Americans, indicating that galactose-1-phosphate uridyltransferase mutations are ethnically diverse. Our three patients had a total of three mutations (c.252+1G>A, p.Q169H and p.E363K), two of which were novel (p.E363K and c.252+1G>A) mutations. Interestingly, c.252+1G>A, which leads to skipping of exon 2, was observed in all three patients (three of six alleles), indicating that this mutation may be common in Koreans with classical galactosemia. Screening for classical galactosemia in 158 126 Korean newborns identified no patient with classical galactosemia. In conclusion, our findings provide further evidence for the ethnic diversity of classical galactosemia, which may be as rare in Koreans as in other Asian populations. © 2011 The Japan Society of Human Genetics All rights reserved.