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Galactosemia: A Korean Patient and Literature Review  

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)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.20, no.1, 2020 , pp. 14-23 More about this Journal
Abstract
Classic galactosemia is a rare genetic disorder in Korea and the mutation spectrum in Koreans differs from that of Caucasians and non-Caucasian Americans. Classic galactosemia is considered a metabolic complication that is preventable by early detection via newborn screening and dietary treatment. In this most recent case of Korean galactosemia, the patient showed early initiation of clinical symptoms, which manifested during the neonatal period. The patient achieved normalization via diet management to correct metabolic complications. In addition, we assessed the characteristics of mutations in 25 Korean galactosemia cases via a literature review of studies associated with classic galactosemia.
Keywords
Galactosemia; Galactose-1-Phosphate Uridyl-Transferase deficiency; GALT deficiency; Galactitol; Cataracts;
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